Alphabetical order

Disease	Gene	OMIM	TAT in weeks
N-acetylglutamate synthetase deficiency¹
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
N-acetyltransferase 2 deficiency
N-acetyltransferase 2 deficiency	NAT2	NAT2	2-3
autoimmune, type 1	AIRE	AIRE	2 - 4
autoimmune, type 1			2 - 4
nail dysplasia, congenital
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
Nail-Patella syndrome^1,3
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
NDH syndrome	GLIS3	GLIS3	2-4
nemaline myopathy
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
neoplasia, multiple endocrine
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
neoplasie, multiple endocrine
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
neoplasm, myeloproliferative^*
-	PDGFRB	PDGFRB	3-4
-	PRV1	PRV1	NULL
-	JAK2, Exon 14, V617F	JAK2, Exon 14, V617F	1-2
-	JAK2	JAK2	1-2
-	MPL	MPL	1-2
NGS	JAK2, CALR, MPL	JAK2, CALR, MPL	2
NGS	JAK2, CALR, MPL, ASXL1, CBL, DNMT3A, EZH2, IDH1, IDH2, RUNX1, SF3B1, SRSF2, TET2, TP53, ZRSR2	JAK2, CALR, MPL, ASXL1, CBL, DNMT3A, EZH2, IDH1, IDH2, RUNX1, SF3B1, SRSF2, TET2, TP53, ZRSR2	2
Nephroblastoma (NGS)
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
Nephronophthisis^1,2,3
NPHP1	NPHP1	NPHP1	2-5
NPHP1	NPHP1	NPHP1	2-3
nephrotic syndrome (NGS)	PLCE1, TRPC6, ACTN4, WT1, SMARCAL1, LAMB2, ITGB4, COQ2, CO	PLCE1,TRPC6,ACTN4,WT1,SMARCAL1,LAMB2,ITGB4,COQ2,CO	4-6
nephrotic syndrome^1,3
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
Netherton syndrome	SPINK5	SPINK5	4-5
neuroblastoma
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome	FLNB	FLNB	5-6
NGS	FLNB	FLNB	3-4
amyotrophic	KIF5A	KIF5A	3-4
amyotrophic	SOD1	SOD1	3-4
amyotrophic 14	VCP	VCP	2-6
Type 2	ALS2	ALS2	1-9 / 100 000
	BRPF1	BRPF1	NULL
	GABRB3	GABRB3	2-4
Leopard syndrome	PTPN11	PTPN11	3-4
-	CEBPA	CEBPA	2
-	CALM-AF10	CALM-AF10	2
-	CBFB-MYH11	CBFB-MYH11	2
-	DEK-CAN	DEK-CAN	2
-	CBL	CBL	2
-	FLT3	FLT3	2
-	IDH1	IDH1	2
-	IDH2	IDH2	2
-	KIT	KIT	2
-	KMT2A-ELL	KMT2A-ELL	2
-	KMT2A-MLLT1	KMT2A-MLLT1	2
-	KMT2A-MLLT3	KMT2A-MLLT3	2
-	KMT2A-MLLT4	KMT2A-MLLT4	2
-	KRAS	KRAS	2
-	MLL-PTD/KMT2A-PTD	MLL-PTD/KMT2A-PTD	2
-	NPM1	NPM1	2
-	NPM1	NPM1	2
-	NPM1-MLF1	NPM1-MLF1	2
-	RUNX1	RUNX1	2
-	TET2	TET2	2
-	WT1	WT1	2
-	RUNX1-RUNX1T1	RUNX1-RUNX1T1	2
NGS	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1	ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP	2
-	FLT3-ITD	FLT3-ITD	2-3
qualitative	PML-RARA	PML-RARA	1
quantitative	PML-RARA	PML-RARA	1-2
NGS	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, ZRSR2	ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1,	2
NGS	CSF3R, SETBP1, ASXL1	CSF3R, SETBP1, ASXL1	2
NGS	CBL, NRAS, KRAS, PTPN11	CBL, NRAS, KRAS, PTPN11	2
-	DNMT3A	DNMT3A	2
-	NRAS	NRAS	2
NGS	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53	2
	ITGB2, SLC35C1, FERMT3	ITGB2, SLC35C1, FERMT3	4-6
Type 1	ITGB2	ITGB2	2-4
Type 3	FERMT3	FERMT3	2-4
NGS	LEUK	LEUK
quantitative	BCR-ABL1 p190/e1a2	BCR-ABL1 p190/e1a2	1-2
	CEBPA, FLT3-ITD, cKIT, NPM1	CEBPA, FLT3-ITD, cKIT, NPM1	NULL
Li-Fraumeni syndrome	TP53	TP53	2-4
Li-Fraumeni syndrome	TP53	TP53	4-6
NGS	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ...	ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A,	4-6
	FKTN	FKTN	2-4
linear skin defects with multiple congenital anoma	COX7B	COX7B	3-4
linear skin defects with multiple congenital anoma	HCCS	HCCS	3-4
-	PPARG	PPARG	2-4
-	LMNB2	LMNB2	2-4
type 1	LIS1/PAFAH1B1	LIS1/PAFAH1B1	4-5
type 2	RELN	RELN	8-12
X-linked	DCX	DCX	8-9
	TUBA1A	TUBA1A	NULL
	SCN5A	SCN5A	NULL
	CALM2	CALM2	NULL
LQT1	KCNQ1	KCNQ1	2-4
LQT1, LQT2, LQT5, LQT6	KCNQ1, KCNH2, KCNE1, KCNE2	KCNQ1, KCNH2, KCNE1, KCNE2	2-4
LQT10	SCN4B	SCN4B	2-4
LQT2	KCNH2	KCNH2	2-4
LQT5	KCNE1	KCNE1	2-4
LQT6	KCNE2	KCNE2	2-4
LQT7	KCNJ2	KCNJ2	2-4
NGS	CALM1, CALM2, AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRPM4	CALM1,CALM2,AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,KCNH2,KCNJ2,KCNJ5,KCNQ1,SCN4B,SCN5A,SNTA1,TRPM4	4-6
type 3	SCN5A	SCN5A	2-4
long-chain 3-hydroxyl-CoA dehydrogenase deficiency	HADHA	HADHA	4-8
	CACNA1C	CACNA1C
Lowe syndrome	OCRL/OCRL1	OCRL/OCRL1	2-4
hemophagocytic	PRF1, STX11, UNC13D	PRF1,STX11, UNC13D	2-4
hemophagocytic, type 2	PRF1	PRF1	4-8
hemophagocytic, type 3	UNC13D	UNC13D	4-8
hemophagocytic, type 4	STX11	STX11	4-8
hemophagocytic, type 5	STXBP2	STXBP2	4-8
NGS	PRF1, UNC13D, STX11, STXBP2	PRF1, UNC13D, STX11, STXBP2	4-8
NGS	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	PLCG1, TP53, TET2, CREBBP, KMT2D/MLL2	2
X-linked	XIAP	XIAP	3-4
	PDE11A	PDE11A	2-4
-	MPDZ	MPDZ	2-4
	CDH1	CDH1
			4-8
			NULL
NGS	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, .....	AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69,	4-6
	KCNT1	KCNT1	NULL
	MLYCD	MLYCD	2-4
NGS	BCKDHA, BCKDHB, DBT, DLD	BCKDHA, BCKDHB, DBT, DLD	4-6
type 1A	BCKDHA	BCKDHA	2-4
type 1B	BCKDHB	BCKDHB	2-4
type 2	DBT	DBT	2-4
Marden-Walker syndrome	PIEZO2	PIEZO2	8-12
Marfan syndrome	FBN1	FBN1	2-4
Marfan syndrome	FBN1	FBN1	2-4
NGS	FBN1, TGFBR1, TGFBR2	FBN1,TGFBR1,TGFBR2	4-6
NGS	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	BIRC3, CARD11, KLF2, KMT2D, MYD88, NOTCH1, NOTCH2, TNFAIP3, TRAF3, TP53	2
NGS	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1	2
	GNAS	GNAS	4-6
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	ACADM	2-4
	AKT3	AKT3	NULL
Meier-Gorlin syndrome 1	ORC1	ORC1	7-8
MELAS syndrome	MT-TL1	MT-TL1	2-4
Menke disease	ATP7A	ATP7A	3-4
	CLTC	CLTC
	DLG4	DLG4
MERRF syndrome	MTTK	MTTK	2-4
metachromatic leucodystrophy	ARSA	ARSA	4-6
			1-2
type 1 and 2	CYB5R3	CYB5R3	2-4
type 1 and 2	CYB5R3	CYB5R3	4-8
cblC	MMACHC	MMACHC	2-4
cblC	MMACHC	MMACHC	2-4
cblD	MMADHC	MMADHC	2-4
methylmalonyl-CoA mutase deficiency	MMUT	MMUT	6-8
sequence analysis MMUT	MMUT	MMUT	2-4
	NSUN2	NSUN2	6-10
	SLC25A22	SLC25A22	2-4
	SUOX	SUOX	3-5
	LIG4	LIG4	4-6
			4-8
-	CEP63	CEP63	3-5
-	IER3IP1	IER3IP1	3-5
-	KIF11	KIF11	3-5
-	MYO16	MYO16	3-5
-	PCNT	PCNT	3-5
-	RBBP8	RBBP8	4-6
-	RTTN	RTTN	3-5
-	SLC25A19	SLC25A19	3-5
-	TRAPPC9	TRAPPC9	3-5
-	TUBB2B	TUBB2B	3-5
MCPH1	MCPH1	MCPH1	3-5
MCPH2	WDR62	WDR62	3-5
MCPH3	CDK5RAP2	CDK5RAP2	3-5
MCPH4	CASC5	CASC5	3-5
MCPH4, MCPH9	CEP152	CEP152	3-5
MCPH5	ASPM	ASPM	3-5
MCPH6	CENPJ	CENPJ	3-5
MCPH8	CEP135	CEP135	5-7
Seckel syndrome	ATR	ATR	3-5
-	PLK4	PLK4	2-4
microvillus inclusion disease	MYO5B	MYO5B	9-10
familial hemiplegic	ATP1A2, CACNA1A, NOTCH3, SCN1A	ATP1A2, CACNA1A, NOTCH3, SCN1A	4-8
familial hemiplegic 2	ATP1A2	ATP1A2	8-10
familial hemiplegic 3	SCN1A	SCN1A	4-5
familial hemiplegic type 1	CACNA1A	CACNA1A	4-6
			4-8
	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	STIL, ASPM, MCPH1, CDK5RAP2, CENPJ, WDR62	2-4
	QARS	QARS	NULL
NGS	MLH1, MSH2, MSH6, PMS2	MLH1, MSH2, MSH6, PMS2	4-8
	MITF	MITF	3-4
NGS	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY	MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR	4-6
MNGIE syndrome	TYMP, POLG, MGME1, RRM2B	TYMP, POLG, MGME1, RRM2B	4-6
MNGIE syndrome	TYMP	TYMP	2-4
MLPA	HNF1A, GCK, HNF4A und HNF1ß	HNF1A, GCK, HNF4A und HNF1ß	2-4
MLPA	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS	2-4
NGS	HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1	HNF4A,HNF1A,HNF1B,GCK,IPF1/PDX1,NEUROD1,KLF11,CEL,PAX4,INS,BLK,ABCC8,KCNJ11,APPL1	4-6
type 1	HNF4A	HNF4A	2-4
type 11	BLK	BLK	2-4
type 14	APPL1	APPL1	2-4
type 2	GCK	GCK	2-4
type 3	HNF1A	HNF1A	2-4
type 4	IPF1/PDX1	IPF1/PDX1	2-4
type 5	HNF1B	HNF1B	2-4
type 6	NEUROD1	NEUROD1	4-6
type 7	KLF11	KLF11	2-4
type 8	CEL	CEL	2-4
type 9	PAX4	PAX4	2-4

			4-8
type A	MOCS1	MOCS1	9-10
type B	MOCS2	MOCS2	9-10
type C	GPHN	GPHN	4-8
NGS	AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24, POLD1	AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,INSR,LMNA,LMNB2,PPARG,PTRF,ZMPSTE24,POLD1	4-8
-	CXCR4	CXCR4	2
-	MYD88	MYD88	2
NGS	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	MYD88, CXCR4, ARID1A, KMT2D (MLL2)	2
mosaic variegated aneuploidy syndrome 1	BUB1B	BUB1B	4-6
Mowat-Wilson syndrome	ZEB2/ZFHX1B	ZEB2/ZFHX1B	5-6
NGS	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH	4-6
type 1H	IDUA	IDUA	4-6
type 3A	SGSH	SGSH	2-4
type 3B	NAGLU	NAGLU	2-4
type 3C	HGSNAT	HGSNAT	2-4
type 4A	GALNS	GALNS	2-4
type 4B	GLB1	GLB1	2-4
type 6	ARSB	ARSB	2-4
type 7	GUSB	GUSB	2-4
Muenke syndrome	FGFR3	FGFR3	1-2
	CFTR	CFTR	2-4
	PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS	PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS	2-4
muscle eye brain syndrome	POMGNT1	POMGNT1	5-6
	DYSF	DYSF	2
congenital	LAMA2	LAMA2	8-10
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	2-4
Duchenne / Becker	DMD	DMD	4-6
Duchenne / Becker	DMD	DMD	2-4
	RAPSN	RAPSN	NULL
	SLC5A7	SLC5A7	NULL
MYH9-related disorders	MYH9	MYH9	2-4
myoclonus-dystonia syndrome	SGCE	SGCE	6-8
genetic recurrent	LPIN1	LPIN1	2-4
	CLCN2	CLCN2	NULL
	SEPN1	SEPN1	3-4
distal	ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP	ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM	4-8
metabolic	AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere	AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere	4-8
NGS	verschiedene Gene für MYOP	verschiedene Gene für MYOP	4-8
Becker, Thomsen	CLCN1	CLCN1	2-4
Becker, Thomsen	CLCN1	CLCN1	2-4
	MYT1L	MYT1L	NULL
N-acetylglutamate synthetase deficiency	NAGS	NAGS	2-4
	DCHS2	DCHS2	NULL
	HGFAC	HGFAC	NULL
	KRTAP5-4	KRTAP5-4	NULL
	NRK	NRK	NULL
	PDE4C	PDE4C	NULL
	PLXNB1	PLXNB1	NULL
	PRDM9	PRDM9	NULL
	SLC5A8	SLC5A8	NULL
	STAG2	STAG2	NULL
	SUSD4	SUSD4	NULL
	ZNFX1	ZNFX1	NULL
	NQO1	NQO1	2-3
nail dysplasia, congenital	FZD6	FZD6	3-4
Nail-Patella syndrome	LMX1B	LMX1B	3-4
Nail-Patella syndrome	LMX1B	LMX1B	2-3
-	KLHL41	KLHL41	4-6
Amish type	TNNT1	TNNT1	4-5
MEN2A	RET	RET	3-4
NGS	RET, MEN1, CDKN1B	RET, MEN1, CDKN1B	4-8
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 1	MEN1	MEN1	3-4
type 4	CDKN1B	CDKN1B	3-4
MEN2B	RET	RET	3-4
NGS			4-8
-	OSGEP	OSGEP	2-4
-	MAGI2	MAGI2	2-4
-	MAGI2	MAGI2	2-4
NPHS1	NPHS1	NPHS1	2-4
NPHS2	NPHS2	NPHS2	2-4
NPHS4	WT1	WT1	1-2
NGS	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53	4-8
neuromyotonia and axonal neuropathy	HINT1	HINT1	6-8
neuronal ceroid lipofuscinosis	ATP13A2	ATP13A2	5-6
	ATL3	ATL3	NULL
autosomal recessive	OTOF	OTOF	4-6
NGS	ELANE, G6PC3, HAX1, JAGN1, WAS	ELANE, G6PC3, HAX1, JAGN1, WAS	4-8
severe congenital 1	ELANE/ELA2	ELANE/ELA2	2-4
severe congenital 3	HAX1	HAX1	4-6
severe congenital 4	G6PC3	G6PC3	4-8
severe congenital 6	JAGN1	JAGN1	4-8
somatic mutations	CSF3R, TP53	CSF3R, TP53	2
X-linked	WAS	WAS	4-8
	NFE2L3	NFE2L3	NULL
			1-2
type C2	NPC2	NPC2	4-6
type C2	NPC2	NPC2	4-6
NGS			4-6 Wochen
Nijmegen breakage syndrome	NBN	NBN	4-5
Nijmegen breakage syndrome	NBN	NBN	4-5
	PNPLA3	PNPLA3	1-2
non-ketotic hyperglycinemia	GCSH	GCSH	3-4
	GNE	GNE	NULL
-	BRAF	BRAF	3-4
-	LZTR1	LZTR1	2-4
-	PTPN11	PTPN11	3-4
-	RAF1	RAF1	3-4
-	RIT1	RIT1	2-4
-	SOS1	SOS1	3-4
-	CBL	CBL	2-4
-	A2ML1	A2ML1	2-4
-	SHOC2	SHOC2	3-4
9	SOS2	SOS2	3-4
NGS	PTPN11, SOS1, RAF1, KRAS, BRAF, RIT1 und weitere Gene für Noonan-Syndrom	PTPN11,SOS1,RAF1,KRAS,BRAF,RIT1 und weitere Gene für Noonan-Syndrom	4-8
NGS	diverse Gene	diverse Gene	4-8
	verschiedene Gene für NYS	verschiedene Gene für NYS	4-8
type 1	FRMD7	FRMD7	2-4
type 1	FRMD7	FRMD7	2-4
type 6	GPR143	GPR143	2-4
	CHRNA4	CHRNA4	NULL
	LRIG2	LRIG2	NULL
oculopharyngeal muscular dystrophy	PABPN1	PABPN1	6-8
	MID1	MID1	NULL
ornithine transcarbamylase deficiency	OTC	OTC	5-8
ornithine transcarbamylase deficiency	OTC	OTC	3-4
			4-8
			NULL
osteopathia striata with cranial sclerosis	AMER1/WTX	AMER1/WTX	2-3
type 2, 4	CLCN7	CLCN7	5-6
	LRP5	LRP5	3-4
NGS	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	APC, BLM, MSH2, PALB2, RB1, RECQL4, TP53, WRN	4-8
NGS	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3	4-8
nonepidermolytic	KRT16	KRT16	4-8
NGS	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11	4-8
-	CDKN2A	CDKN2A	3-4
Pancreatic colipase deficiency	PNLIP	PNLIP	2-4
	PRSS1, SPINK1, CTRC	PRSS1, SPINK1, CTRC	2-4
PAPA syndrome	PSTPIP1/CD2BP1	PSTPIP1/CD2BP1	2-3
	SCN4A	SCN4A	3-5
	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1	2-3
17	VPS35	VPS35	4-8
23, autosomal recessive, early onset	VPS13C	VPS13C	4-8
infantile hypotonic	SLC18A2	SLC18A2	4-8
juvenile, type 2	PRKN	PRKN	4-8
Parkinson disease	LRRK2	LRRK2	4-8
Parkinson disease	diverse	diverse	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease	PINK1	PINK1	4-8
Parkinson disease 1, 4	SNCA	SNCA	4-8
	PNKD	PNKD	6-8
			NULL
			NULL
mitochondrial			3-4
Pelizaeus-Merzbacher-like disease	AIMP1	AIMP1	5-7
Pelizaeus-Merzbacher-like disease	GJC2	GJC2	4-5
Pelizaeus-Merzbacher-like disease	HSPD1	HSPD1	4-5
	PLP1	PLP1	2-3
	PLP1	PLP1	2-3
	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
-	SLC26A4	SLC26A4	2-4
	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	AP1S3, CARD14, CECR1, ELANE, FOXD3, HAX1, IL10, IL	6-8
-	AMHR2	AMHR2	2-3
-	AMH, AMHR2	AMH,AMHR2	3-4
-	AMH	AMH	2-3
-	CYP1B1	CYP1B1	2-4
-	PAX6	PAX6	2-4
-	PITX2	PITX2	2-4
glaucoma 1A	MYOC	MYOC	2-4
	PNMT	PNMT	NULL
	PAH	PAH
Schinzel type	WNT7A	WNT7A	4-5
			NULL
Pierson syndrome	LAMB2	LAMB2	2-4
NGS	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3	4-8
type 1	POU1F1	POU1F1	2-4
type 1	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR	2-4
type 3	LHX3	LHX3	2-4
type 4	LHX4	LHX4	2-4
type 5	HESX1	HESX1	2-4
	RUNX1	RUNX1
autosomal recessive	PKHD1	PKHD1	4-6
			NULL
-	ALG8	ALG8	3-4
-	GANAB	GANAB	3-4
-	PRKCSH	PRKCSH	3-4
-	SEC63	SEC63	3-4
	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	AIRE, STAT3, FOXP3, ITCH, LRBA, IL2RA, STAT1, JAK1, CTLA4, STAT5b, SIRT1, TNFAIP3	NULL
NGS	APC, MUTYH, NTHL1, POLD1, POLE	APC, MUTYH, NTHL1, POLD1, POLE	4-6
NGS	BMPR1A, PTEN, SMAD4, STK11	BMPR1A, PTEN, SMAD4, STK11	4-6
-	MUTYH	MUTYH	4-8
-	MUTYH	MUTYH	3-4
	BICC1	BICC1	NULL
	TSEN54	TSEN54	3-4
type 2A, 4, 5	TSEN54	TSEN54	3-4
type 1A	VRK1	VRK1	3-4
			NULL
porencephaly 2	COL4A2	COL4A2	4-8
acute hepatic	ALAD	ALAD	4-8
	ALAD, HMBS, PPOX	ALAD,HMBS,PPOX
	HMBS	HMBS
			NULL
NGS			4-6
NGS	verschiedene Gene für CPEO	verschiedene Gene für CPEO	4-6
			4-6
NGS	AIP, DICER, MEN1, SDHB	AIP, DICER, MEN1, SDHB	4-6
protein C receptor deficiency	PROCR	PROCR	3-4
protoporphyria, erythropoietic	FECH	FECH	8-20
-	WNK1	WNK1	2-4
-	WNK4	WNK4	2-4
-	WNK4	WNK4	2-4
-	KLHL3	KLHL3	2-4
purine nucleoside phosphorylse deficienc	PNP	PNP	8-10
	ALDH7A1	ALDH7A1	2-4
pyruvate carboxylase deficiency	PC	PC	2-4
pyruvate kinase deficiency	PKLR	PKLR	4-6
			NULL
	FAM20C	FAM20C	4-8
	HNF1B/TCF2	HNF1B/TCF2	2-3

	NLRP7/NALP7, KHDC3L, MEI1, C11orf80	NLRP7/NALP7, KHDC3L, MEI1, C11orf80
			NULL
NGS			4-6
renal tubular acidosis, proximal	SLC4A4	SLC4A4	2-4
	CCDC66	CCDC66	2-4
	verschiedene Gene für REDE	verschiedene Gene für REDE	4-8
-	RGS9BP	RGS9BP	2-4
	TMPRSS3	TMPRSS3	3-4
retinitis pigmentosa	USH3A	USH3A	2-3
type 62	MAK	MAK	3-4
-	RB1	RB1	4-6
-	RB1	RB1	4-6
NGS	RB1, MYCN	RB1, MYCN	4-8
X-linked, juvenile	RS1	RS1	2-4
	MECP2	MECP2	3-4
	MECP2	MECP2	3-4
congenital variant	FOXG1	FOXG1	3-4
congenital variant	FOXG1	FOXG1	4-5
like	CDKL5	CDKL5	3-4
like	CDKL5	CDKL5	2-3
like	NTNG1	NTNG1	3-4
			NULL
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	2-3
Rubinstein Taybi syndrome	CREBBP	CREBBP	4-8
Rubinstein Taybi syndrome	EP300	EP300	4-8
Rubinstein Taybi syndrome	CREBBP, EP300	CREBBP, EP300	4-8
	TWIST1	TWIST1	2-3
Sandhoff disease	HEXB	HEXB	4-8
	SMARCB1	SMARCB1	2-4
SCID and Omenn syndrome	RAG1	RAG1	3-4
SCID and Omenn syndrome	RAG2	RAG2	3-4
	OXCT1	OXCT1	2-4
	NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8	NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8	4-8
sepiapterin reductase deficiency	SPR	SPR	2-3
SESAME sndrome	KCNJ10	KCNJ10	3-4
	NR5A1	NR5A1	2-4
-	AMXY	AMXY	3-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
gonadal dysgenesis	NR0B1	NR0B1	2-4
	ASXL2	ASXL2	NULL
SHOX deficiency	SHOX	SHOX	2-4
SHOX deficiency	SHOX	SHOX	2-4
Shprintzen-Goldberg syndrome	SKI	SKI	2-6
Shwachman-Diamond syndrome	SBDS	SBDS	2-4
sialic acid storage disorder	SLC17A5	SLC17A5	4-6
Simpson-Golabi-Behmel syndrome	GPC3	GPC3	2-4
	GPC3, GPC4	GPC3,GPC4	2-4
NGS	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, EVC, EVC2, GDF3, GDF6, GMNN, GNAI3, HAAO, HES7, KAT6B, KYNU, LFNG, LMX1B, MEOX1, MESP2, MNX1, MYO18B, NKX3-2, OFD1, ORC1, ORC4, ORC6, PLCB4, .......	ABCC9, ALX1, ALX3, ALX4, BMPER, CDC45L, CDC6, CDT1, CILK1, DHODH, DLL3, EDN1, EDNRA, EFNB1, EFTUD2,	4-6

Charlevoix-Saguenay type	SACS	SACS	14-16
type 11	SPG11	SPG11	4-5
type 17	BSCL2	BSCL2	4-5
type 3	ATL1	ATL1	2-3
type 3	ATL1	ATL1	2-4
type 31	REEP1	REEP1	3-4
type 4	SPAST	SPAST	2-4
type 4	SPAST	SPAST	2-3
type 5	CYP7B1	CYP7B1	3-4
type 6	NIPA1	NIPA1	NULL
type 7	SPG7	SPG7	8-12
spermatogenic failure, AZF factor	USP9Y	USP9Y	2-4
	RAD51	RAD51	2-4
type 1	IGHMBP2	IGHMBP2	3-4
type 1, 2, 3, 4	SMN1	SMN1	3-4
type 1, 2, 3, 4	SMN1	SMN1	10-14
type 3	SMN2	SMN2	2-3
X-linked 2	UBE1/UBA1	UBE1/UBA1	5-6
			4-6
	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	SCA1, SCA2, SCA3, SCA6, SCA7, SCA17	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	3-4
type 1	SCA1/ATXN1	SCA1/ATXN1	4-5
type 12	SCA12/PPP2R2B	SCA12/PPP2R2B	3-4
type 17	TBP/SCA17	TBP/SCA17	3-4
type 2	ATXN2/SCA2	ATXN2/SCA2	3-4
type 3	ATXN3/SCA3	ATXN3/SCA3	3-4
type 6	CACNA1A/SCA6	CACNA1A/SCA6	3-4
type 7	ATXN7/SCA7	ATXN7/SCA7	3-4
type 8	SCA8	SCA8	4-5
	KCND3	KCND3
	FLNB	FLNB	2-3
	FLNB	FLNB	3-4
	FLNB	FLNB	5-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	4-6
congenital type	COL2A1	COL2A1	2-3
type trada	TRAPPC2	TRAPPC2	2-4
	XYLT2	XYLT2	NULL
Statin therapy	SLCO1B1	SLCO1B1	3-4
Statin therapy	SLCO1B1, ABCG2, ABCB1	SLCO1B1, ABCG2, ABCB1	3-4
NGS	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD and TP53	4-8
			2-3
	ALDH5A1	ALDH5A1	NULL
sucrase-isomaltase deficiency	SI	SI	3-5
	SOD2	SOD2	4-6
surfactant protein deficiency	ABCA3	ABCA3	3-4
surfactant protein deficiency	ABCA3, SFTPC	ABCA3, SFTPC	2-4
surfactant protein deficiency	SFTPB	SFTPB	3-4
surfactant protein deficiency	SFTPB	SFTPB	2-3
surfactant protein deficiency	SFTPC	SFTPC	3-4
NGS	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC	6-8
			NULL
	PIP5K1C	PIP5K1C	NULL
	MED13	MED13
multiple	GDF5	GDF5	3-4
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
systemic-onset juvenile idiopathic arthritis	IL6	IL6	1-2
	PF4	PF4	NULL
	HEXA	HEXA	2-3
	HEXA	HEXA	3-4
AB variant	GM2A	GM2A	4-5
			NULL
	SLC19A2	SLC19A2	2-4
thiopurine methyltransferase deficiency	TPMT	TPMT	3
-	ANKRD26	ANKRD26	4-6
-	GATA1	GATA1	4-6
NGS			4-6
thrombotic thrombocytopenic purpura	ADAMTS13	ADAMTS13	2-4
NGS	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1	DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2	4-8
type 1	DYT1	DYT1	2-3
transaldolase deficiency	TALDO1	TALDO1	6-8

Treacher Collins syndrome	POLR1C	POLR1C	3-4
Treacher Collins syndrome	POLR1D	POLR1D	3-4
Treacher Collins syndrome	TCOF1	TCOF1	6-8
Treacher Collins syndrome	TCOF1	TCOF1	2-3
trichothiodystrophy	MPLKIP	MPLKIP	3-4
NGS			4-6
	PCGF2	PCGF2
	TAT	TAT	4-6
	UL	UL	NULL
	ANKS4B	ANKS4B	2-4
NGS	divers	divers	4-8
type 1C	USH1C	USH1C	2-4
type 1F	PCDH15	PCDH15	2-4
type 1F	PCDH15	PCDH15	2-4
type 1G	USH1G	USH1G	2-4
type 1J	CIB2	CIB2	2-4
type 2A	USH2A	USH2A	2-4
type 2A	USH2A	USH2A	2-4
type 2C	GPR98/ADGRV1	GPR98/ADGRV1	2-4
type 3A	USH3A	USH3A	2-3
type 3B	HARS	HARS	2-4
type 48	CIB2	CIB2	3-4
			NULL
			NULL
ADA2 deficiency	CECR1/ADA2	CECR1/ADA2	2-4
very long chain acyl-CoA dehydrogenase deficiency	ACADVL	ACADVL	2-4
type 1A	CYP27B1	CYP27B1	3-4
Type 1B	CYP2R1	CYP2R1	3-4
	VWF	VWF	2-4 Wochen
	EDNRB, NRTN	EDNRB, NRTN	3-4
-	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	SFXN4	SFXN4	NULL
	GHRHR	GHRHR	2-4
-	WT1	WT1	3-4
	verschiedene Gene für WAGR	verschiedene Gene für WAGR	NULL
	DDX11	DDX11	3-4
-	EZH2	EZH2	2-4
-	NSD1	NSD1	2-4
-	NSD1	NSD1	2-4
Wiedemann-Steiner syndrome	KMT2A/MLL1	KMT2A/MLL1	4-6
Williams Beuren syndrome	CLIP2, ELN, LIMK	CLIP2, ELN, LIMK	3-4
-	REST	REST	2-4
-	WT1	WT1	2-4
-	WT1	WT1	2-4
NGS	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wilson disease	ATP7B	ATP7B	2-4
Wolman disease	LIPA	LIPA	3-4
	DCAF17	DCAF17	NULL
	WWP2	WWP2
			4-6
type 1	XDH	XDH	2-4
NGS	DDB2, ERCC1-5, POLH, XPA, XPC	DDB2,ERCC1-5, POLH, XPA, XPC	4-8
	diverse	diverse	4-8
			8-12
transient neonatal	SLC30A2	SLC30A2	4-6
Neurodegeneration with brain iron accumulation
	TAOK2	TAOK2
	GTPBP2	GTPBP2	2-6
Neurodegeneration with brain iron accumulation (NBIA)
	KCTD7	KCTD7	NULL
	NAA15	NAA15	NULL
	TBCD	TBCD	NULL
adrenocorticotropic hormone deficiency	TBX19	TBX19	2-4
	SLC16A2	SLC16A2	2-4
alpha-methylacetoacetic aciduria	ACAT1	ACAT1	2-4
	SLC34A2	SLC34A2	2-4
ANXA1 mutation	ANXA1	ANXA1	3-4
	PRKG1	PRKG1
argininemia	ARG1	ARG1	2-4
aromatase deficiency	CYP19A1	CYP19A1	6-8
type 3	FOXC1	FOXC1	2-4
Best macular dystrophy	BEST1	BEST1	3-4
	IHH	IHH	2-4
	TNNI3	TNNI3	2-4
dilated	ACTN2	ACTN2	NULL
dilated	TNNT2	TNNT2	2-4
dilated	MYH7	MYH7	2-4
dilated or hypertrophic	NEXN	NEXN	2-4
hypertrophic	TPM1	TPM1	NULL
hypertrophic	RBM20	RBM20	2-4
NGS	ABCC9, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CALR3, CAV3, CAVIN4, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATAD1, GLA, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MYB	ABCC9,ACTC1,ACTN2,ALMS1,ALPK3,ANKRD1,BAG3,BRAF,CALR3,CAV3,CAVIN4,CHRM2,CRYAB,CSRP3,CTNNA3,DES,DMD,DO	4-6

CILD5	HYDIN	HYDIN	3-6
NGS			4-8
	verschiedene Gene für CFEOM	verschiedene Gene für CFEOM	4-8
-	CLCN5	CLCN5	2-4
-	OCRL/OCRL1	OCRL/OCRL1	2-4
-	GATA4	GATA4	2-4
-	GATA6	GATA6	2-4
-	PTF1A	PTF1A	2-4
NGS	ABCC8, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, MNX1, NKX2-2, PDX1, PTF1A, WFS1, ZFP57	ABCC8,EIF2AK3,FOXP3,GATA6,GCK,GLIS3,HNF1B,IER3IP1,INS,KCNJ11,MNX1,NKX2-2,PDX1,PTF1A,WFS1,ZFP57	4-6
	PHIP	PHIP	NULL
	ROBO3	ROBO3	2-4
	TBX6	TBX6	4-8
	DEPDC5	DEPDC5	5-6
Frasier sydrome	WT1	WT1	2-4
	CHCHD10	CHCHD10	2-4
galactosemia	GALT	GALT	2-4
galactosemia	GALT, GALE, GALK1	GALT, GALE, GALK1	4-6
galactosemia	GALT	GALT	2-4
Generalized epilepsy and paroxysmal dyskinesia	KCNMA1	KCNMA1	4-6
	SLC12A3	SLC12A3	2-4
Gitelman syndrome	SLC12A3	SLC12A3	2-4
GRACILE syndrome	BCS1L	BCS1L	2-4
	HECW2	HECW2	NULL
hyper-IgD syndrome	MVK	MVK	3-4
hyper-IgD syndrome	MVK	MVK	4-6
	APOB	APOB	NULL
	APOB	APOB	2-4
	LDLR	LDLR	3-4
-	APOB	APOB	2-3
-	CETP	CETP	2-4
-	LDLR	LDLR	2-4
	SLC34A3	SLC34A3	2-4
	SLC34A1	SLC34A1	2-4
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
NGS	ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere	ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere	4-8
ichthyosis, congenital, autosomal recessive 1	TGM1	TGM1	4-6
	ROGDI	ROGDI
type 1	GUCY2D	GUCY2D	4-5
type 10	CEP290	CEP290	3-5
type 11	IMPDH1	IMPDH1	3-4
type 12	RD3	RD3	3-4
type 13	RDH12	RDH12	3-4
type 14	LRAT	LRAT	3-4
type 15	TULP1	TULP1	3-4
type 16	KCNJ13	KCNJ13	3-4
type 2	RPE65	RPE65	3-4
type 3	SPATA7	SPATA7	3-4
type 4	AIPL1	AIPL1	4-6
type 5	LCA5	LCA5	3-4
type 6	RPGRIP1	RPGRIP1	3-4
type 6	RPGRIP1	RPGRIP1	3-4
type 7	CRX	CRX	3-4
type 7	GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26)	GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26)	3-4
type 8	AIPL1, CRB1, CRX, LCA5, RPE65	AIPL1, CRB1, CRX, LCA5, RPE65	2-4
type 8	CRB1	CRB1	4-5
type 9	NMNAT1	NMNAT1	3-4
metachromatic	PSAP	PSAP	6-10
leukoencaphalopathy			4-8
NGS	ABCA3, CSF2RA, CSF2RB, MARS, SFTPB, NKX2-1 etc	ABCA3, CSF2RA, CSF2RB, MARS, SFTPB, NKX2-1 etc	6-10
	PLCB1	PLCB1	NULL
	RAB18	RAB18	NULL
MEN2A	RET	RET	3-4
	SSR4	SSR4	NULL
	TOE1	TOE1	NULL
			4-8
PLA2G6-associated neurodegeneration (PLAN)	PLA2G6	PLA2G6	3-4
progressive external	POLG1	POLG1	4-8
progressive external	POLG1	POLG1	2-4
type 1, 2, 3, 4	COL1A1	COL1A1	4-6
type 2, 3, 4	COL1A2	COL1A2	4-6
type 2, 3, 4	COL1A2	COL1A2	4-6
type 5 and type 6	IFITM5	IFITM5	1-3
	FLNA	FLNA	NULL
P450 oxidoreductase deficiency	POR	POR	2-4
2	TGM5	TGM5	5-7
NGS	FH, GDNF, KIF1B, MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, VHL, MEN1, TSC1, TSC2	FH, GDNF, KIF1B, MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, VHL, MEN1, TSC1, TSC2	4-8
	SDHB, SDHC, SDHD, SDHAF1, SDHAF2	SDHB, SDHC, SDHD, SDHAF1,SDHAF2	2-3
-	SMAD4	SMAD4	4-8
-	SMAD4	SMAD4	4-8
porphyria cutanea tarda	FECH, UROS, UROD and CPOX	FECH, UROS, UROD and CPOX	2-4
porphyria cutanea tarda	UROS	UROS	8-20
	CSTB	CSTB	3-4
Progressive Myoclonic Epilepsy	CSTB	CSTB	4-5
	AIP	AIP	3-4
pyruvate dehydrogenase E3 deficiency	DLD	DLD	2-4
Refsum syndrome	diverse Gene	diverse Gene	4-8
NGS	ADAMTS10, ADAMTS17, ADAMTSL2, BMPR1B, COL11A1, COL11A2, DVL1, DVL3, EXT1, FBN1, FGFR2, FGFR3, FLNA, FZD2, GDF5, GPC6, GSC, IFT122, IFT140, IFT43, IHH, LIFR, LRP4, LTBP2, LTBP3, MAB21L2, MIR140, NPR2, NXN, PDE4D, PRKAR1A, ROR2, SHOX, SLC26A2, SLCO5A1, .....	ADAMTS10, ADAMTS17, ADAMTSL2, BMPR1B, COL11A1, COL11A2, DVL1, DVL3, EXT1, FBN1, FGFR2, FGFR3, FLNA,	4-6
			NULL
split-hand/foot malformation	WNT10B	WNT10B	2-4
	ABCA4, IMPG1, ELOVL4, PROM1	ABCA4, IMPG1, ELOVL4, PROM1	4-6
			NULL
	SALL1	SALL1	3-4
type1	WFS1	WFS1	2-4
X-linked hyper-IgM syndrome	CD40LG, CD40, UNG, AICDA	CD40LG, CD40, UNG, AICDA	5-6 Wochen
neurodegeneration with brain iron accumulation¹	PLA2G6 + PANK2	PLA2G6 + PANK2	2-3
neurodegenerative disease¹
Aicardi-Goutieres syndrome	TREX1	TREX1	2-4
NGS	IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR	IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR	4-8
-			4-8 Wochen
angioedema	C1NH/SERPING1	C1NH/SERPING1	3-4
	ATN1	ATN1	2-3
dihydropyrimidin dehydrogenase deficiency	DPYD	DPYD	1
	COL9A2	COL9A2
			4-8
	GRIN1	GRIN1	NULL
Huntington disease-like 2	JPH3	JPH3	3-4
	CASR	CASR	2-4
type 1	CASR	CASR	2-4
type 2	GNA11	GNA11	2-4
type 3	AP2S1	AP2S1	2-4
IMAGe syndrome	CDKN1C	CDKN1C	2-4
IRIDA syndrome	TMPRSS6	TMPRSS6	2-4
type 4	CAVIN1/PTRF	CAVIN1/PTRF	2-4
	ATRX	ATRX	NULL
	HIBCH	HIBCH	2-4
	DOK7	DOK7	NULL
neurodegenerative disease	PANK2, PLA2G6, C19ORF12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, DCAF17, RAB39B	PANK2,PLA2G6,C19ORF12,FA2H,ATP13A2,WDR45,COASY,FTL,CP,DCAF17,RAB39B	4-8
	GNAO1	GNAO1
	SCN10A	SCN10A	4-6
	SCN11A	SCN11A	4-6
	SCN9A	SCN9A	2-4
type 1a	SPTLC1	SPTLC1	NULL
Type 2			4-8
Type 2	KIF1A	KIF1A	NULL
Type 2	WNK1	WNK1	4-5
Type 4	NTRK1	NTRK1	4-6
Type 5	NGF	NGF	3-4
type IC	SPTLC2	SPTLC2	NULL
NGS	ACVRL1, ENG, SMAD4, GDF2	ACVRL1, ENG, SMAD4, GDF2	4-6
type 1	ENG	ENG	4-6
type 1,2	ENG, ACVRL1	ENG, ACVRL1	2-3
type 2	ACVRL1	ACVRL1	4-6
type 5	GDF2	GDF2	4-6
Papillon-Lefèvre syndrome	CTSC	CTSC	4-5
	ADCY5, PRRT2, SLC2A1, SCN8A, KCNMA1, PNKD	ADCY5, PRRT2, SLC2A1, SCN8A, KCNMA1, PNKD	4-8
	POLD1	POLD1
type 1a	GNAS	GNAS	2-4
type 1a	GNAS	GNAS	4-6
NGS	ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MBTPS2, NBAS, NOTCH2, P3H1, P4HB, PLOD2, PLS3, POLR3A, PPIB, PYCR1, SEC24D, SERPINF1, SERPINH1, SGMS2, SP7, SPARC, TENT5A, ........	ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB,	4-6
NGS	APC, CDKN1B, DICER1, FOXE1, HABP2, MEN1, NKX2-1, PRKAR1A, RET, PTEN, TP53	APC, CDKN1B, DICER1, FOXE1, HABP2, MEN1, NKX2-1, PRKAR1A, RET, PTEN, TP53	4-8
triple A syndrome	AAAS	AAAS	2-4
type 1	TSC1	TSC1	3-4
type 2	TSC2	TSC2	4-5
			2-3
	verschiedene Gene für WAS	verschiedene Gene für WAS	4-6
			NULL
neurofibromatosis
	WDR91	WDR91	NULL
17-beta hydrosysteroid dehydrogenase 3 deficiency	HSD17B3	HSD17B3	2-4
-	GP1BA	GP1BA	2-4
NGS	RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, MPL, SBDS...	RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM,	4-8
			NULL
	RPS6KA3	RPS6KA3	NULL
Danon disease	LAMP2	LAMP2	2-4
			NULL
	EGFR	EGFR	NULL
	CHD2	CHD2	NULL
-	LTBP2	LTBP2	3-4
	PTCH1	PTCH1
-	LDLRAP1	LDLRAP1	2-4
-	PCSK9	PCSK9	2-4
-	STAP1	STAP1	2-4
	PGAP3	PGAP3	NULL
NGS			4-8
qualitative	BCR-ABL	BCR-ABL	1-2
	SGCA, SGCB, SGCD, SGCG und FKRP	SGCA, SGCB, SGCD, SGCG und FKRP
MYH9-related disorders	MYH9	MYH9	2-4
			NULL
NGS	NF1, NF2, SMARCB1, SPRED1	NF1, NF2, SMARCB1, SPRED1	4-6
type 1	NF1	NF1	4-6
type 1	NF1	NF1	2-3
type 2	NF2	NF2	4-6
type 2	NF2	NF2	2-4
type 3	SMARCB1	SMARCB1	4-6
			4-8
paroxysmal nocturnal hemoglobinuria	PIGA	PIGA	2-4
paroxysmal nocturnal hemoglobinuria	PIGA, PIGT	PIGA,PIGT	2-4
	CLPP; HARS2, HSD27B4, LARS2	CLPP; HARS2, HSD27B4, LARS2	4-8
autosomale recessive	HARS2	HARS2	2-4
autosomale recessive	HSD17B4	HSD17B4	3-4
type 3	CLPP	CLPP	3-4
type 4	LARS2	LARS2	3-4
	CHD1	CHD1	NULL
-	DNAJB11	DNAJB11	3-4
autosomal dominant	GANAB	GANAB	2-4
autosomal dominant	PKD1	PKD1	2-4
autosomal dominant	PKD1	PKD1	2
autosomal dominant	PKD2	PKD2	2-4
propionic acidemia	PCCA	PCCA	6-10
propionic acidemia	PCCA, PCCB	PCCA, PCCB	6-10
propionic acidemia	PCCA, PCCB	PCCA, PCCB	NULL
propionic acidemia	PCCB	PCCB	6-10
renal	NR3C2	NR3C2	2-4
-	HNF1B/TCF2	HNF1B/TCF2	2-4
	diverse Gene	diverse Gene	4-6
	SRD5A3	SRD5A3	NULL
NGS	verschiedene Gene für STICK	verschiedene Gene für STICK	4-8
type 1	COL2A1	COL2A1	4-6
type 1	COL2A1	COL2A1	4-6
type 1	COL2A1	COL2A1	2-3
type 2	COL11A1	COL11A1	4-6
type 2	COL11A1	COL11A1	2-4
autoimmune lymphoproliferative type 2	CASP10	CASP10	2-4
	AIRE, CASP10, CASP8, FADD, FAS, FASLG, FOXP3, IL2RA, ITCH, PRKCD, STAT3, TNS3	AIRE, CASP10, CASP8, FADD, FAS, FASLG, FOXP3, IL2RA, ITCH, PRKCD, STAT3, TNS3	4-6
	RBM10	RBM10	3-4
MLPA analysis UPD(14)mat			2-4
von Willebrand diseased	VWF	VWF	4-6
von Willebrand diseased	VWF	VWF	2-4
Type I	PAX3, MITF, SOX10	PAX3, MITF, SOX10	7-8
Type I	PAX3	PAX3	3-4
Type II	SOX10	SOX10	3-4
Type II	MITF	MITF	3-4
Type II	SNAI2	SNAI2	3-4
Type II	SNAI2	SNAI2	3-4
Type III	PAX3	PAX3	3-4
Type IV	SOX10	SOX10	3-4
neuromyotonia and axonal neuropathy^*
	CDK13	CDK13	NULL
	CHGA	CHGA	NULL
	CTBP1	CTBP1	NULL
	FOXA2	FOXA2	NULL
	MACF1	MACF1	NULL
	PCDH12	PCDH12	NULL
	PCM1	PCM1

	PTCHD1	PTCHD1	NULL
	RREB1	RREB1	NULL
	SHANK2	SHANK2	NULL
	TANC2	TANC2	2-4
	TRIP12	TRIP12	NULL
			NULL
	HMGCL	HMGCL	4-6
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	MCCC1	2-4
3-methylcrotonyl-CoA carboxylase 1/2 deficiency	MCCC1, MCCC2	MCCC1, MCCC2	4-8
type 1	AUH	AUH	2-4
3M syndrome	CCDC8	CCDC8	2-4
3M syndrome	CUL7	CUL7	2-4
3M syndrome	OBSL1	OBSL1	2-4
3MC syndrome	MASP1	MASP1	5-6
abetalipoproteinemia	MTP	MTP	4-6
NGS	CNGA3, CNGB3, GNAT2, PDE6C, ATF6	CNGA3,CNGB3,GNAT2,PDE6C,ATF6	4-6
type 2	CNGA3	CNGA3	3-4
type 3	CNGB3	CNGB3	3-4
type 4	GNAT2	GNAT2	3-4
-	GLI3	GLI3	3-5
-	GLI3	GLI3	2-3
	GLI3, KIF7	GLI3, KIF7	NULL
acrodermatitis enteropathica	SLC39A4	SLC39A4	3-4
	DLL4	DLL4	2-4
	DOCK6	DOCK6	2-4
	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	4-8
	ERIS	ERIS	4-5
type 7	TMC1	TMC1	4-5
X-linked	ABCD1	ABCD1	2-4
ADTKD			NULL
	GNAS	GNAS	2-4
Alexander syndrome	GFAP	GFAP	4-6
alkaptonuria	HGD	HGD	2-4
Alpha-ketoglutarate dehydrogenase deficiency	OGDH	OGDH	3-5
			4-6
	IGFALS	IGFALS	2-4
Alzheimer disease	APP, PSEN1, PSEN2, apoE4	APP, PSEN1, PSEN2, apoE4	4-8
Alzheimer disease	APP	APP	4-8
Alzheimer disease	PSEN1	PSEN1	4-8
	TARDBP	TARDBP	3-4
	SEPTIN9	SEPTIN9
Anderman syndrome	SLC12A6	SLC12A6	NULL
androgen insensitivity syndrome	AR	AR	2-4
androgen insensitivity syndrome	AR	AR	2-4
hemolytic	CD59	CD59	2-4
-	SEC23B	SEC23B	2-4
NGS	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	CDAN1, CDIN1, KLF1, KIF23, GATA1, SEC23B	4-6
type 1	CDAN1	CDAN1	2-4
	PAX6, WT1, SOX2	PAX6, WT1, SOX2	2-4
	ANK3	ANK3
anticoagulant sensitivity	CYP4F2	CYP4F2	2-3
anticoagulant sensitivity	VKORC1	VKORC1	2-3
antithrombin 3 deficiency	SERPINC1	SERPINC1	4-6
NGS			4-6
Apert syndrome	FGFR2	FGFR2	2-3
-	FOXD3	FOXD3	2-4
-	FOXE3	FOXE3	2-4
apparent mineralocorticoid excess	HSD11B2	HSD11B2	2-4
argininosuccinic aciduria	ASL	ASL	2-4
	DZIP1L	DZIP1L	NULL
	PKHD1L1	PKHD1L1	4-6
			4-6
			4-6
			4-6
			4-6
			4-6
Ashkenazi Jewish panel			7-8
Ashkenazi Jewish panel			7-8
oculomotor apraxia type 1	APTX	APTX	6-8
ataxia with vitamin E deficiency	TTPA	TTPA	5-6
	HARS2	HARS2	2-4
autosomal dominant, type 1	DIAPH3	DIAPH3	4-5
autosomal-recessive, type 59	DFNB59	DFNB59	2-4
	NLGN1	NLGN1
	PTPN4	PTPN4
type 1	FAS	FAS	2-4
type 1	FASLG/FASL	FASLG/FASL	2-4
type 2B	CASP8	CASP8	2-4
type 3	PRKCD	PRKCD	2-4
type 1	ACTB	ACTB	2-4
type 2	ACTG1	ACTG1	2-4
Methylation analysis H19-DMR and KvDMR1	H19, KCNQ1OT1	H19,KCNQ1OT1	2-4
sequence analysis CDKN1C	CDKN1C	CDKN1C	4-6
sequence analysis CDKN1C	CDKN1C	CDKN1C	2-4
sequence analysis NLRP2	NLRP2	NLRP2	2-4
	KCNQ3	KCNQ3	NULL
-	GP1BB	GP1BB	4-6
beta-propeller protein-associated neurodegeneratio	WDR45	WDR45	2-4
Bietti crystalline corneoretinal dystrophy	CYP4V2	CYP4V2	4-6
			NULL
	SLC19A3	SLC19A3	2-4
	BTD	BTD	NULL
	FLCN	FLCN
-	DICER1	DICER1	4-8
-	DICER1	DICER1	4-8
autosomal dominant	FOXL2	FOXL2	2-4
Bloom syndrome	BLM	BLM	3-4
Bloom syndrome			8-10
-	OPN1LW	OPN1LW	3-4
-	OPN1MW	OPN1MW	3-4
			2-3
type 1	FKBP10	FKBP10	2-4
type 2	PLOD2	PLOD2	2-4
Brunner syndrome	MAOA	MAOA	6-8
	TXNL4A	TXNL4A	2-4
butyrylcholinesterase deficiency	BCHE	BCHE	4-5
Börjeson-Forssman-Lehmann syndrome	PHF6	PHF6	2-4
CACH syndrome	EIF2B1	EIF2B1	3-4
CACH syndrome	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5	6-8
CACH syndrome	EIF2B2	EIF2B2	4-5
CACH syndrome	EIF2B3	EIF2B3	4-5
CACH syndrome	EIF2B4	EIF2B4	4-5
CACH syndrome	EIF2B5	EIF2B5	4-5
Caffey disease	COL1A1	COL1A1	4-6
Caffey disease	COL1A1	COL1A1	2-3
			4-8
NGS	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	TP53, KRAS, MYC, ARID1A, PTEN, EGFR, SMARCA4, RICTOR, MLL2/KMT2D, BRAF	2
carbamoylphosphate synthetase 1 deficiency	CPS1	CPS1	2-4
-	MYBPC3	MYBPC3	2-4
NGS	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	DES, DSP, LMNA, MYH7, MYBPC3, TNNT2, ACTN2 und weitere	4-6
NGS	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1	4-6
type 1	PRKAR1A	PRKAR1A	4-6
-	SLC22A5	SLC22A5	2-4
type 2	CPT2	CPT2	2-4
type 1A	CPT1A	CPT1A	2-4
	LC25A20	LC25A20	2-4
cartilage-hair hypoplasia	RMRP	RMRP	2-3
	DSP	DSP	2-4
type 6	EPHA2	EPHA2	2-4
	NHS	NHS	2-4
type 17	CRYBB1	CRYBB1	2-4
type 2	CRYGC	CRYGC	2-4
type 3	CRYBB2	CRYBB2	2-4
type 31	CHMP4B	CHMP4B	2-4
type 4	CRYGD	CRYGD	2-4
type 9	CRYAA	CRYAA	2-4
Catechol-O methyltransferase activity	COMT	COMT	2-3
	CDH10	CDH10
cerebral cavernous malformations	KRIT1, CCM2, PDCD10	KRIT1, CCM2, PDCD10	4-8
Chanarin-Dorfman syndrome	ABHD5	ABHD5	4-8
dominant intermediate B	DNM2	DNM2	3-4
dominant intermediate D	MPZ	MPZ	4-5
type 1A	PMP22	PMP22	2-3
type 1B	MPZ	MPZ	3-4
type 1C	LITAF	LITAF	3-4
type 1D	EGR2	EGR2	3-4
type 1E	PMP22	PMP22	3-4
type 2A	MFN2	MFN2	3-4
type 2F	HSPB1	HSPB1	3-4
type 2H	GDAP1	GDAP1	3-4
type 2I	MPZ	MPZ	3-4
type 2J	MPZ	MPZ	4-5
type 2K	GDAP1	GDAP1	3-4
type 2N	AARS	AARS	NULL
type 2O	DYNC1H1	DYNC1H1	2-4
type 2U	MARS	MARS	NULL
type 4A	GDAP1	GDAP1	3-4
type 4B1			4-8
type 4C	SH3TC2	SH3TC2	3-4
type 4E	EGR2	EGR2	3-4
type 4F	PRX	PRX	3-4
type 4J	FIG4	FIG4	2-4
type 5	PRPS1	PRPS1	3-4
X-chromsomal	Cx32 / GJB1	Cx32 / GJB1	3-4
	LRSAM1	LRSAM1
	SBF2	SBF2	NULL
	NEFL	NEFL	2-4
	CHD7	CHD7	2-4
Chediak-Higashi syndrome	LYST	LYST	4-6
cherubism	SH3BP2	SH3BP2	4-6
	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ...	ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1,...	8-12
Blomstrand type	PTH1R	PTH1R	NULL
metaphyseal, Schmid type	COL10A1	COL10A1	2-3
Chorea Huntington	HTT	HTT	4-5
			NULL
			NULL
chronic granulomatosis	CYBB	CYBB	4-6
chronic granulomatosis	CYBA, CYBB, NCF1, NCF2, NCF4	CYBA, CYBB, NCF1, NCF2, NCF4	10-12
	IgVH	IgVH	2-3
NGS	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2	4-6
CINCA syndrome	CIAS1 / NLRP3	CIAS1 / NLRP3	3-4
NGS	ALX4, FIG4, MSX2, RUNX2, VAC14	ALX4, FIG4, MSX2, RUNX2, VAC14	4-6
	CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2	CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2	4-6
	VPS13B/COH1	VPS13B/COH1	4-6
	VPS13B/COH1	VPS13B/COH1	2-3
coloboma	PAX6	PAX6	3-4
	MSH6, EPCAM	MSH6, EPCAM	4-6
NGS	MLH1, MSH2, MSH6, PMS2, EPCAM	MLH1, MSH2, MSH6, PMS2, EPCAM	4-8
type 1 / 2	MLH1, MSH2	MLH1, MSH2	4-6
type 2	MLH1	MLH1	4-6
type 4	PMS2	PMS2	4-6
type 5	MSH6	MSH6	4-6
type 7	MLH3	MLH3	4-6
type 8	EPCAM	EPCAM	4-8
type 8	EPCAM	EPCAM	3-4
type1	MSH2	MSH2	4-6
	C1QTNF5	C1QTNF5	3-4
-	OPN1LW	OPN1LW	3-4
-	AIPL1	AIPL1	2-4
-	C21ORF2	C21ORF2	3-4
-	CDH3	CDH3	3-4
-	CRX	CRX	3-4
-	CTNNA1	CTNNA1	3-4
-	FBLN5	FBLN5	NULL
-	GUCY2D	GUCY2D	3-4
-	HMCN1	HMCN1	4-8
-	KCNV2	KCNV2	3-4
-	PDE6C	PDE6C	3-4
-	PRPH2, BEST1	PRPH2, BEST1	3-4
-	RAX2	RAX2	3-4
-	PRPH2	PRPH2	3-4
-	RGS9	RGS9	3-4
-	RIMS1	RIMS1	3-4
-	RPGR	RPGR	3-4
-	RPGRIP1	RPGRIP1	3-4
Type 20	POC1B	POC1B	2-4
Type 21	DRAM2	DRAM2	2-4
type 3	CACNA1F	CACNA1F	4-5
type 3	ABCA4	ABCA4	2-4
type 3	GUCA1A	GUCA1A	3-4
type 3	SEMA4A	SEMA4A	NULL
X-linked	ORF15, RPGR	ORF15, RPGR	4-8
Jalili syndrome	CNNM4	CNNM4	2-4
coproporphyria	CPOX	CPOX	8-20
	DCN	DCN	2-4
corneal dystrophy	SLC4A11	SLC4A11	2-4
corneal dystrophy	ZEB1	ZEB1	2-4
	RAD21	RAD21	NULL
			4-6
	SMC3	SMC3	NULL
	HRAS	HRAS	2-4
NGS	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD	4-6
type 1	PTEN	PTEN	3-4
type 1	PTEN	PTEN	2-3
type 1	PTEN	PTEN	2-3
type 2	SDHB	SDHB	3-4
type 3	SDHD	SDHD	3-4
type 4	KLLN	KLLN	3-4
type 5	PIK3CA	PIK3CA	3-4
type 6	AKT1	AKT1	3-4
type 7	SEC23B	SEC23B	3-4
NGS	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IHH, IL11RA, IRX5, KRAS, LRP5, MASP1, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1....	ALPL, ALX4, BMP4, CCBE1, CDC45, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, GLI3, IFT1	4-6
Crouzon syndrome with acanthosis nigricans	FGFR3	FGFR3	3-4
NGS	diverse Gene	diverse Gene	4-8
	ALG9	ALG9	2-4
cystinosis	CTNS	CTNS	2-4
cystinosis	CTNS	CTNS	2-4
			NULL
			NULL
Darier disease	ATP2A2	ATP2A2	4-6
NGS			4-6
	DSPP	DSPP	NULL
	WAC	WAC	NULL
Desbuquois Syndrome	CANT1	CANT1	3-4
-	AQP2	AQP2	2-4
-	AVPR2	AVPR2	2-4
-	ABCC8	ABCC8	2-4
-	EIF2AK3	EIF2AK3	2-4
-	GCK	GCK	2-4
-	INS	INS	2-4
-	INS	INS	2-4
-	KCNJ11	KCNJ11	2-4
-	ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR	ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR	2-4
Diamond Blackfan anemia	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26	4-6
Diamond Blackfan anemia	RPS19	RPS19	2-4
DiGeorge syndrome	TBX1	TBX1	4-5
isolated congenital	HPGD	HPGD	2-4
	FLNC	FLNC	NULL
			4-8
Donnai-Barrow syndrome	LRP2	LRP2	4-6
Doyne honeycomb degeneration of retina	EFEMP1	EFEMP1	3-4
Dubin Johnson syndrome	ABCC2	ABCC2	4-6
	DYM	DYM	2-4
spondylocostal	DLL3	DLL3	4-6
spondylocostal	HES7	HES7	4-6
spondylocostal	LFNG	LFNG	4-6
spondylocostal	MESP2	MESP2	4-6
postaxial	DHODH	DHODH	2-4
acromesomelic , Maroteaux Type	NPR2	NPR2	4-6
acromesomelic, Hunter-Thompson type	GDF5	GDF5	2-4
campomelic	SOX9	SOX9	2-4
campomelic	SOX9	SOX9	2-3
cleidocrania	RUNX2	RUNX2	2-3
cleidocranial	RUNX2	RUNX2	2-4
dyssegmental, Silverman-Handmaker type	HSPG2	HSPG2	4-6
familial isolated arrhythmogenic ventricular	DSG2	DSG2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
familial isolated arrhythmogenic ventricular	PKP2	PKP2	2-4
frontometaphyseal	MAP3K7	MAP3K7	4-6
multiple epiphyseal, type 4	SLC26A2	SLC26A2	2-4
oculodentodigital	GJA1	GJA1	3-4
odontoonychoderma	WNT10A	WNT10A	NULL
thanatophoric	FGFR3	FGFR3	3-4
-	HESX1	HESX1	8-9
	DSC2	DSC2	NULL
DYT25	GNAL	GNAL	5-6
	VLDLR	VLDLR	NULL
Eagle-Barret syndrome	CHRM3	CHRM3	5-6
hair/nail type	KRT85	KRT85	4-8
	EGFR	EGFR	4-6
	COL5A1	COL5A1	NULL
-	EVC	EVC	2-4
-	EVC, EVC2	EVC, EVC2	2-4
-	EVC2	EVC2	2-4
breast cancer			1
congenital, due to enteropeptidase deficiency	TMPRSS15/PRSS7	TMPRSS15/PRSS7	2-4
	SLF2	SLF2	2-4
	ACY1	ACY1
	SCN8A	SCN8A	4-5
	SYNJ1	SYNJ1	NULL
-	COL7A1, KRT5	COL7A1, KRT5	2-3
-	COL17A1	COL17A1	6-8
dystrophica	COL7A1	COL7A1	6-8
Herlitz type	LAMC2	LAMC2	3-4
junctional	LAMA3	LAMA3	4-5
junctional, Herlitz type	LAMB3	LAMB3	3-4
junctional, non-Herlitz type	ITGB4	ITGB4	2-4
junctional, type non-Herlitz	LAMB3	LAMB3	3-4
NGS	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5	4-8
simplex	KRT14	KRT14	3-4
simplex	KRT5	KRT5	3-4
epidermolytic palmoplantar keratoderma	KRT1	KRT1	4-8
epidermolytic palmoplantar keratoderma	KRT9	KRT9	4-8
	PCDH19	PCDH19	NULL
	HCN1	HCN1
	NTRK2	NTRK2	4-6
	SLC6A1	SLC6A1	NULL
	CACNA1E	CACNA1E	NULL
-	EPOR	EPOR	4-6
-	EPOR	EPOR	4-6
-	EPOR	EPOR	2-4
			6
type 1	FZD4	FZD4	2-4
type 4	LRP5	LRP5	3-4
Fabry disease	GLA	GLA	3-4
Fabry disease	GLA	GLA	2-3
factor 10 deficiency	F10	F10	2-3
factor 13A1 deficiency	F13A1	F13A1	4-6
factor 7 deficiency	F7	F7	4-6
familial cerebral cavernous malformation	PDCD10	PDCD10	4-5
type 3	CLDN16	CLDN16	2-4
type 5	CLDN19	CLDN19	2-4
-	BRIP1/FANCJ	BRIP1/FANCJ	4-8
-	FANCA	FANCA	4-8
-	FANCA	FANCA	3-4
-	FANCC	FANCC	4-8
-	FANCD1/BRCA2	FANCD1/BRCA2	4-8
-	FANCI	FANCI	4-8
hromosomal breakage study			2-3
NGS	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2	4-8
	FANCA	FANCA
	ASAH1	ASAH1	2-4

NGS	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ESR1, ESR2, F2, F5, FIGLA, FGF8, FGFR1, FOXL2, FSHB, FSHR, GNRH1, GNRHR, HARS2, HFM1, HSD17B3, HSD17B4, INHA, KHDC3L, KISS1, ....	AR, BMP15, BTG4, BUB1B, CBX2, C11orf80, CFTR, CLPP, CPEB1, CYP21A2, CYP11A1, DHH, EIF2B1, EIF2B2, EI	4-6
	FGFR2	FGFR2	4-5

Floating-Harbor syndrome	SRCAP	SRCAP	4-5
			4-8
	FMR1	FMR1	2-5
Fragile X syndrome	FMR1	FMR1	4-5
Frank-Ter Haar syndrome	SH3PXD2B	SH3PXD2B	6-8
Friedreich ataxia	FXN	FXN	3-4
Friedreich ataxia	FXN	FXN	2-4
fructose intolerance	ALDOB	ALDOB	2-4
	SMCHD1	SMCHD1
			1-2
galactokinase deficiency with cataracts	GALK1	GALK1	2-4
-	CTNNA1	CTNNA1	4-8
NGS	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53	4-8
	GBA	GBA	2-3
	ACTL6A	ACTL6A	2-4
	SOX3	SOX3	2-4
type 1	ENPP1	ENPP1	2-4
generalized pustular psoriasis	IL36RN	IL36RN	3-4
			NULL
			NULL
			6-10
juvenile type	CTSA	CTSA	2-4
Gilbert syndrome	UGT1A1	UGT1A1	1-2
			4-6
	BVES	BVES	NULL
glioma	POT1	POT1	2-4
glioma	POT1	POT1	2-4
NGS	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2	4-8
glomuvenous malformation	GLMN	GLMN	NULL
NGS	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	AAAS, AIRE, CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR0B1 (DAX1), NR3C1, POMC, STAR, TBX19, TXNRD2	4-6
glucose/galactose malabsorption	SLC5A1	SLC5A1	2-4
type I	GCDH	GCDH	8-12
glycine amidinotransferase deficiency	GATM	GATM	5-7
glycine encephalopathy	AMT	AMT	3-4
glycine encephalopathy	GLDC	GLDC	3-4
	RFT1	RFT1	3-6
congenital	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1	PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11,	4-8
congenital	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199	B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S	4-8
congenital	MGAT2	MGAT2	4-8
congenital	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165	ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3,	4-8
congenital type 1T	PGM1	PGM1	2-4
congenital, type 1A	PMM2	PMM2	4-8
congenital, type 1B	MPI	MPI	2-4
congenital, type 2	ALG9	ALG9	2-4
type 1-3	GLB1	GLB1	14-16
Goltz-Gorlin syndrome	PORCN	PORCN	4-5
	SUFU	SUFU
	GLI3	GLI3	2-3
gyrate atrophy of the choroid and retina	OAT	OAT	2-4
	SLC29A3	SLC29A3	2-4
-	BRAF	BRAF	2
NGS	BRAF, KLF2, CDKN1B	BRAF, KLF2, CDKN1B	2
			NULL
MLPA			2-4
NGS	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6	4-8
type 1	HFE	HFE	4-8
type 2A	HFE2/HJV	HFE2/HJV	4-8
NGS			4-6
hemophilia A	F8	F8	2-3
hemophilia A	F8	F8	4-5
prognostic marker	ITPA	ITPA	NULL
type 1	SLC22A12	SLC22A12	2-4
type 2	SLC2A9	SLC2A9	2-4
	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR	4-6
	GGCX	GGCX	2-4
			3-5
	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC	4-6 Wochen
	verschiedene Gene für HPS	verschiedene Gene für HPS	4-8
type 5	HPS5	HPS5	2-4
type 6	HPS6	HPS6	2-4
type 8	BLOC1S3	BLOC1S3	2-4
type 1	HPS1	HPS1	2-4
	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP52, CFAP53, CFC1, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXH1, GALNT11, GAS2L2, GAS8, GDF1, HYD	ACVR2B, ANKS3, ARMC4, BCL9L, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFAP5	4-8
	EDN3	EDN3	3-4
-	EDNRB	EDNRB	3-4
	verschiedene Gene	verschiedene Gene	NULL
susceptibility/resistance to	CCR5	CCR5	2-3
NGS	diverse Gene	diverse Gene	4-8
NGS	DICER, FAS, POT1, PTPN11, TP53	DICER, FAS, POT1, PTPN11, TP53	4-6
Hutchinson-Gilford progeria	LMNA	LMNA	3-4
	KYNU	KYNU	5-6
	L1CAM	L1CAM	3-4
Hyper-IgD-Syndrom	MVK	MVK
	SCN4A	SCN4A	3-5
NGS	APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1	APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1	4-6
1	GLRA1	GLRA1	8-20
1-3	GLRA1, GLRB, SLC6A5	GLRA1, GLRB, SLC6A5	4-6
2	GLRB	GLRB	8-20
3	SLC6A5	SLC6A5	8-12
hyperferritinemia	FTL	FTL	4-6
hyperferritinemia	FTL	FTL	4-6
	UCP2	UCP2	2-4
type 3	APOE	APOE	2-3
hyperlipoproteinemia	LPL	LPL	2-4
hyperostosis corticalis generalisata	LRP5	LRP5	3-4
	SLC26A1	SLC26A1	2-4
type 3	HOGA1/DHDPSL	HOGA1/DHDPSL	2-4
			4-6
			2-4 Wochen
	TRPV6	TRPV6	2-4
	PIGV	PIGV	NULL
	PIGW	PIGW	NULL
type 2	ALDH4A1	ALDH4A1	3-4
malignant	RYR1, CACNA1S, STAC3	RYR1, CACNA1S,STAC3	4-6
			4-6
Hypoalphalipoproteinemia	LCAT	LCAT	2-4
Hypocalcemia	CASR	CASR	2-4
Hypocalcemia	CASR	CASR	2-4
	COL2A1	COL2A1	2-3
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondrogenesis	COL2A1	COL2A1	4-6
hypochondroplasia	FGFR3	FGFR3	1-2
hypochondroplasia	FGFR3	FGFR3	3-4
NGS			4-6
hypomyelinating leukodystrophy-5	FAM126A	FAM126A	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	2
hypophosphatasia	ALPL/TNSALP	ALPL/TNSALP	4-6
	SLC9A3R1	SLC9A3R1	2-4
			4-6
autosomal dominant	FGF23	FGF23	2-4
autosomal dominant	FGF23	FGF23	2-4
X-linked dominant	PHEX	PHEX	2-4
X-linked dominant	PHEX	PHEX	2-4
hypoplastic left heart syndrome	NKX2-5	NKX2-5	2-4
IGF1 deficiency	IGF1	IGF1	2-4
IGF1 deficiency	IGF1	IGF1	2-4
	IL3RA	IL3RA	2-4
immuno deficiency	IRAK4	IRAK4	6-8
immuno deficiency 47	ATP6AP1	ATP6AP1	4-8
immunoglobulin A (IgA) deficiency	TNFRSF13B	TNFRSF13B	4-6
Infantile Hypercalciuria	CYP24A1	CYP24A1	2-4
infertility, CBAVD	CFTR	CFTR	3-4
infertility, CBAVD	CFTR	CFTR	3-4
	HIVEP2	HIVEP2	NULL
	MBOAT7	MBOAT7
	CNKSR2	CNKSR2	NULL
	USP9X	USP9X	NULL
	GRIA3	GRIA3	NULL
	SETD5	SETD5	NULL
	TRAPPC11	TRAPPC11
Interleukin-1 receptor antagonist deficiency	IL1RN	IL1RN	3-5
IPEX syndrome	FOXP3	FOXP3	2-4
Irinotecan Therapy	UGT1A1	UGT1A1	2-3

isovaleric acidemia	IVD	IVD	5-6
Jackson-Weiss syndrome	FGFR2	FGFR2	1-2
Jackson-Weiss syndrome	FGFR2	FGFR2	3-4
JPM syndrome	PSMB8	PSMB8	8-12
	CACNB4	CACNB4	34-35
	CACNG4	CACNG4	NULL
	LDB3	LDB3	NULL
	PLN	PLN	NULL
	SLC25A3	SLC25A3	3-4
	CAV3	CAV3	2-4
	LMNA	LMNA	2-4
	TTN	TTN	NULL
3-Hydroxyisobutyrate dehydrogenase deficiency	HIBADH	HIBADH	2-4
	MGP	MGP	4-6
			1-2
	KMT2C	KMT2C	NULL
type 1	GDF6	GDF6	8-20
type 3	GDF3	GDF3	8-20
Klippel-Feil syndrome 2	MEOX1	MEOX1	8-20
type 1	COL18A1	COL18A1	2-4
	CARS2	CARS2
	ITPR3	ITPR3
	TUBB	TUBB	2-4
Krabbe disease	GALC	GALC	6-10
L-2-hydroxyglutaric aciduria	L2HGDH	L2HGDH	8-10
congenital	LCT	LCT	3-4
LARGE associated diseases	LARGE	LARGE	5-6
Laron syndrome	GHR	GHR	2-4
Laron syndrome	GHR, IGF1, JAK2, STAT5B	GHR, IGF1, JAK2, STAT5B	2-4
Larsen syndrome	FLNB	FLNB	2-3
Larsen syndrome	FLNB	FLNB	3-4
Larsen syndrome