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Categorical order

Usher syndrome
Disease Gene OMIM TAT in weeks
Retinitis pigmentosa1,2,3      
retinitis pigmentosa USH3A 606397 2-3
type 62 MAK *154235 3-4
TMPRSS3 605511 3-4
Usher Syndrome1,2,3      
type 1C USH1C 605242 2-4
type 1F PCDH15 605514 2-4
type 1G USH1G 607696 2-4
type 1J CIB2 605564 2-4
type 2A USH2A 608400 2-4
type 2C GPR98/ADGRV1 602851 2-4
type 3A USH3A 606397 2-3
type 48 CIB2 605564 3-4
Usher syndrome1,2,3      
type 1B MYO7A 276903 2-4
type 1D CDH23 605516 2-4
type 2 D DFNB31 607928 2-4
deafness1,2,3      
- CACNA1D 114206 3-4
- GPSM2 609245 3-4
- KCNE1 176261 2-3
- KCNQ1 607542 4-5
- MT-RNR1 180450 2-3
- MT-TS2 590085 2-3
- PCDH15 605514 4-5
- POU3F4 300039 3-4
41 P2RX2 600844 2-3
type 1 DIAPH1 602121 4-5
type 10 EYA4 603550 3-4
type 12 CDH23 605516 4-6
type 12, modifier of ATP2B2 108733 4-5
type 13 COL11A2 120290 4-5
type 15 POU4F3 602460 3-4
type 1B / 3B GJB6 604418 2-3
type 2/11 MYO7A 276903 4-6
type 22 OTOA 607038 4-5
type 24 RDX 179410 3-4
type 25 GRXCR1 613283 3-4
type 28 TRIOBP 609761 4-5
type 2A KCNQ4 603537 4-5
type 3 MYO15A 602666 3-4
type 30 MYO3A 606808 4-5
type 31 DFNB31 607928 3-4
type 36 ESPN 606351 4-5
type 37/22 MYO6 600970 4-5
type 3A/1A GJB2 121011 1-2
type 40 CRYM 123740 4-5
type 48 MYO1A 601478 3-4
type 4A MYH14 608568 3-4
type 5 DFNA5 608798 4-5
type 59 DFNB59 610219 3-4
type 6/14/38 WFS1 606201 3-4
type 63 LRTOMT 612414 4-5
type 77 LOXH1 613072 4-5
type 8/12 TECTA 602574 4-5
type 9 COCH 603196 4-5
type 9 OTOF 603681 4-6
type 91 SERPINB6 173321 3-4
COL11A1 120280 2-4
STRC
retinitis pigmentosa1,2,3      
- RP1L1 608581 3-4
juvenile AIPL1 604392 2-4
juvenile LRAT 604863 3-4
juvenile SPATA7 609868 3-4
type 1 RP1 603937 4-5
type 10 IMPDH1 146690 3-4
type 11 PRPF31 606419 3-4
type 12 CRB1 604210 4-5
type 13 PRPF8 607300 4-5
type 14 TULP1 602280 3-4
type 17 CA4 114760 3-4
type 19 ABCA4 601691 2-4
type 2 RP2 300757 3-4
type 20 RPE65 180069 3-4
type 25 RP25/EYS 612424 4-5
type 26 CERKL 608381 3-4
type 3 RPGR 312610 3-4
type 30 FSCN2 607643 3-4
type 31 TOPORS 609507 4-5
type 33 SNRNP200 601664 3-4
type 37 NR2E3 604485 4-6
type 38 MERTK 604705 4-6
type 38 RBP3 180290 4-6
type 39 USH2A 608400 2-4
type 4 RHO 180380 4-5
type 40 PDE6B 180072 4-6
type 41 PROM1 604365 3-4
type 42 KLHL7 180380 4-5
type 43 PDE6A 180071 4-6
type 44 RGR/RP44 600342 4-6
type 45 CNGB1 600724 4-6
type 46 IDH3B 604526 4-6
type 47 SAG 181031 4-6
type 49 CNGA1 123825 4-6
type 54 C2ORF71 613425 2-4
type 56 IMPG2 607056 3-4
type 64 C8ORF37 614477 2-4
type 65 CDHR1 609502 4-6
type 7 PRPH2 179605 3-4
type 7 ROM1 602225 3-4
ATP2B2 108733 2-4
CRX 602225 4-5
FAM161A 613596 3-4
FLVCR1 609144 3-4
NRL 4-5
RIPK3 605817 3-4
RLBP1 180090 3-4

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¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.

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