previous

Alphabetical order

Disease Gene OMIM TAT in weeks
P450 oxidoreductase deficiency*      
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
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
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
Pachyonychia congenita1      
2 KRT17 KRT17 4-8
NGS KRT16, KRT17, KRT6A, KRT6B, KRT6C KRT16, KRT17, KRT6A, KRT6B, KRT6C 4-8
palmoplantar keratoderma1      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
pancreatic cancer, familial      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
pancreatic cancer/melanoma syndrome      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
pancreatitis, hereditary      
PKD1, PKD2, DNAJB11, GANAB, ALG9 PKD1,PKD2,DNAJB11,GANAB,ALG9 12-18
alpha-1-antitrypsin deficiency SERPINA1 SERPINA1 1-2
choroideremia CHM CHM 4-6
pancreatitis, hereditary CFTR CFTR 1-3
pancreatitis, hereditary CFTR CFTR 1-3
pancreatitis, hereditary PRSS1 PRSS1 3-4
pancreatitis, hereditary SPINK1 SPINK1 3-4
type 1 FAH FAH 4-6
PAPA syndrome*      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
Papillon-Lefèvre syndrome*      
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
paramyotonia congenita      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
paraplegia      
spastic 4-8
Parkinson disease1      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
paroxysmal dyskinesia      
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
paroxysmal kinesigenic dyskinesia      
type 1 CCBE1 CCBE1 8-9
type 2 FAT4 FAT4 8-9
4-6
paroxysmal kinesigenic dyskinesia PRRT2 PRRT2 2-4
paroxysmal nocturnal hemoglobinuria      
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
Pearson syndrome      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
peeling skin syndrome*      
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
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
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
Pelizaeus-Merzbacher-like disease      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
Pelizeus Merzbacher Disease      
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
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
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
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
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
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, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, 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
Pena-Shokeir Syndrome      
- COL3A1 COL3A1 2-4
alcohol intolerance ADH2/ADH1B ADH2/ADH1B 2-3
alcohol intolerance ALDH2 ALDH2 1-2
of childhood WISP3 WISP3 2-4
ABCB11, ATP8B1 ABCB11,ATP8B1 4-8
type A2 GDF5 GDF5 2-4
type C GDF5 GDF5 2-4
type D/E HOXD13 HOXD13 4-5
cerebrooculofacioskeletal syndrome ERCC1 ERCC1 6-10
MME MME NULL
ERF ERF NULL
congenital malabsorptive diarrhea NEUROG3 NEUROG3 4-8
Conotruncal heart malformation NKX2-6 NKX2-6 2-4
Conotruncal heart malformation TBX1 TBX1 2-4
MNX1 MNX1 2-4
dyskeratosis congenita DKC1 DKC1 4-6
NGS CTC1, DKC1, RTEL1, TERC, TERT, TINF2, ACD, NHP2 CTC1, DKC1, RTEL1, TERC, TERT, TINF2, ACD, NHP2 4-8
MR1 MR1 4-5
familial Mediterranean fever MEFV MEFV 1-2
familial Mediterranean fever MEFV MEFV 2-4
familial Mediterranean fever MEFV MEFV 2-4
familial Mediterranean fever MEFV MEFV NULL
ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, HSD17B10, MLYCD, SLC22A5, SLC25A20 ACADL,ACADM,ACADS,ACADVL,CPT1A,CPT2,ETFA,ETFB,ETFDH,HADHA,HADHB,HSD17B10,MLYCD,SLC22A5,SLC25A20 4-8
4-6
NGS CA5A, FBP1, PC, PCK1, PCK2 CA5A,FBP1,PC,PCK1,PCK2 4-6
- ABCC8 ABCC8 2-4
- ABCC8 ABCC8 2-4
- HADH HADH 2-4
- INSR INSR 2-4
- KCNJ11 KCNJ11 2-4
- PIK3CA PIK3CA 2-4
NGS ABCC8, KCNJ11, GLUD1, GCK, HNF4A, SLC16A1, UCP2, HADH, ... ABCC8,KCNJ11,GLUD1,GCK,HNF4A,SLC16A1,UCP2,HADH,... 4-8
KABUK1 MLL2/KMT2D MLL2/KMT2D 2-4
KABUK1 MLL2/KMT2D MLL2/KMT2D 2-4
KABUK2 KDM6A KDM6A 2-4
KABUK2 KDM6A KDM6A 2-4
NGS 4-6
AML1-ETO, BCR-ABL, CALM-AF10, CBFB-MYH11, DEK-CAN, MLL-AF6, MLL-AF9, MLL-ELL, MLL-PTD, NPM1-MLF1, PML-RARA AML1-ETO, BCR-ABL, CALM-AF10, CBFB-MYH11, DEK-CAN, MLL-AF6, MLL-AF9, MLL-ELL, MLL-PTD, NPM1-MLF1, PM 2
NULL
KCNJ18 KCNJ18 3-4
Type 2 ERCC6 ERCC6 3-4
IQCE IQCE
Renal tubular acidosis, distal/proximal CA2 CA2 2-4
Sanjad-Sakati syndrome TBCE TBCE 2-3
NGS CALM1, CASQ2, KCNJ2, RYR2, TRDN CALM1, CASQ2, KCNJ2, RYR2, TRDN 4-8
TBCK TBCK NULL
DUOX2 DUOX2 2-4
NULL
NGS FAH, TAT, HPD FAH,TAT,HPD 4-6
NGS ACVRL1, COL4A1, EFEMP2, ENG, FLNA, GDF2, NOTCH1, PKD1, SLC2A10, SMAD4, SMAD6 ACVRL1,COL4A1,EFEMP2,ENG,FLNA,GDF2,NOTCH1,PKD1,SLC2A10,SMAD4,SMAD6 4-6
Pendred Syndrom1,2,3      
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
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
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
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