Ophthalmic Genetics Group (Institute of Molecular and Clinical Ophthalmology Basel), IOB
General information
Ophthalmic Genetics Group, IOB
Institute of Molecular and Clinical Ophthalmology Basel
Mittlere Strasse 91
Basel
Basel-Stadt
Switzerland - 4031
https://iob.ch/
Organization ID: 507918
Institute of Molecular and Clinical Ophthalmology Basel
Mittlere Strasse 91
Basel
Basel-Stadt
Switzerland - 4031
https://iob.ch/
Organization ID: 507918
Personnel
- Francesca Cancellieri, Staff
Phone: +41612045362
Email: francesca.cancellieri@iob.ch - Elifnaz Celik, Staff
Phone: +41612045362
Email: elifnaz.celik@iob.ch - Marc Folcher, Staff
Phone: +41612045362
Email: marc.folcher@iob.ch - Ji Hoon Han, Staff
Phone: +41612045362
Email: jihoon.han@ion.ch - Karolina Kaminska, Staff
Phone: +41612045362
Email: karolina.kaminska@iob.ch - Mathieu Quinodoz, Informatics staff
Phone: +41794889110
Email: mathieu.quinodoz@iob.ch - Mukhtar Ullah, Staff
Phone: +41612045362
Email: mukhtar.ullah@iob.ch
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 200
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 24 | Jul 26, 2023 |
| ADGRV1 | 1 | Jul 26, 2023 |
| ARL2BP | 1 | Jul 26, 2023 |
| BBS1 | 1 | Jul 26, 2023 |
| BEST1 | 1 | Jul 26, 2023 |
| BLOC1S1-RDH5 | 2 | Jul 26, 2023 |
| CACNA1F | 2 | Jul 26, 2023 |
| CD63 | 2 | Jul 26, 2023 |
| CDKL5 | 2 | Jul 26, 2023 |
| CEP290 | 4 | Jul 26, 2023 |
| CERKL | 4 | Jul 26, 2023 |
| CFAP410 | 1 | Jul 26, 2023 |
| CHM | 3 | Jul 26, 2023 |
| CLN3 | 2 | Jul 26, 2023 |
| CNGA3 | 3 | Jul 26, 2023 |
| CNGB1 | 3 | Jul 26, 2023 |
| CNGB3 | 1 | Jul 26, 2023 |
| COQ8B | 5 | Jul 30, 2024 |
| CRB1 | 6 | Jul 26, 2023 |
| CRX | 2 | Jul 26, 2023 |
| CYGB | 1 | Jul 26, 2023 |
| DRAM2 | 1 | Jul 26, 2023 |
| EYS | 9 | Jul 26, 2023 |
| FAM161A | 1 | Jul 26, 2023 |
| FLVCR1 | 2 | Jul 26, 2023 |
| GPHN | 6 | Jul 26, 2023 |
| GUCA1A | 1 | Jul 26, 2023 |
| GUCA1ANB-GUCA1A | 1 | Jul 26, 2023 |
| GUCY2D | 2 | Jul 26, 2023 |
| IMPG1 | 2 | Jul 26, 2023 |
| IMPG2 | 1 | Jul 26, 2023 |
| KCNV2 | 1 | Jul 26, 2023 |
| LCA5 | 1 | Jul 26, 2023 |
| LOC126805793 | 4 | Jul 26, 2023 |
| LOC129935214 | 1 | Jul 26, 2023 |
| LOC130066823 | 1 | Jul 26, 2023 |
| LOC130068202 | 2 | Jul 26, 2023 |
| MERTK | 2 | Jul 26, 2023 |
| MFSD8 | 1 | Jul 26, 2023 |
| MT-CYB | 19 | Aug 29, 2023 |
| MT-TE | 1 | Aug 29, 2023 |
| MT-TT | 2 | Aug 29, 2023 |
| MYO7A | 4 | Jul 26, 2023 |
| NR2E3 | 2 | Jul 26, 2023 |
| OAT | 1 | Jul 26, 2023 |
| PDE6A | 2 | Jul 26, 2023 |
| PDE6B | 1 | Jul 26, 2023 |
| PDE6C | 1 | Jul 26, 2023 |
| PRCD | 1 | Jul 26, 2023 |
| PROM1 | 7 | Jul 26, 2023 |
| PRPF31 | 1 | Jul 26, 2023 |
| PRPF31-AS1 | 1 | Jul 26, 2023 |
| PRPF8 | 1 | Jul 26, 2023 |
| PRPH2 | 2 | Jul 26, 2023 |
| RAB28 | 2 | Jul 26, 2023 |
| RDH12 | 6 | Jul 26, 2023 |
| RDH5 | 2 | Jul 26, 2023 |
| RHO | 5 | Jul 26, 2023 |
| RLBP1 | 1 | Jul 26, 2023 |
| RP1 | 2 | Jul 26, 2023 |
| RP2 | 4 | Jul 26, 2023 |
| RPE65 | 4 | Jul 26, 2023 |
| RPGR | 6 | Jul 26, 2023 |
| RPGRIP1 | 3 | Jul 26, 2023 |
| RS1 | 2 | Jul 26, 2023 |
| SNRNP200 | 1 | Jul 26, 2023 |
| SPATA7 | 2 | Jul 26, 2023 |
| SSBP1 | 1 | Jul 26, 2023 |
| TTLL5 | 3 | Jul 26, 2023 |
| TULP1 | 1 | Jul 26, 2023 |
| USH2A | 19 | Jul 26, 2023 |
| USH2A-AS2 | 1 | Jul 26, 2023 |
| WDR19 | 2 | Jul 26, 2023 |
| ZDHHC24 | 1 | Jul 26, 2023 |
| ZFYVE26 | 1 | Jul 26, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Achromatopsia | 2 | Jul 26, 2023 |
| Bardet-Biedl syndrome | 1 | Jul 26, 2023 |
| Choroidal dystrophy, central areolar 2 | 1 | Jul 26, 2023 |
| Choroideremia | 3 | Jul 26, 2023 |
| Cone dystrophy | 6 | Jul 26, 2023 |
| Cone-rod dystrophy | 31 | Jul 26, 2023 |
| Congenital stationary night blindness | 3 | Jul 26, 2023 |
| Familial cancer of breast | 16 | Aug 29, 2023 |
| Juvenile retinoschisis | 2 | Jul 26, 2023 |
| Leber congenital amaurosis | 18 | Jul 26, 2023 |
| Ornithine aminotransferase deficiency | 1 | Jul 26, 2023 |
| Ovarian neoplasm | 7 | Aug 29, 2023 |
| Renal dysplasia and retinal aplasia | 2 | Jul 26, 2023 |
| Retinal dystrophy | 4 | Jul 26, 2023 |
| Retinal macular dystrophy type 2 | 1 | Jul 26, 2023 |
| Retinitis pigmentosa | 73 | Jul 30, 2024 |
| Severe early-childhood-onset retinal dystrophy | 1 | Jan 26, 2021 |
| Stargardt disease | 14 | Jul 26, 2023 |
| Usher syndrome | 14 | Jul 26, 2023 |