Laboratory of Genetics in Ophthalmology
(Institut Imagine)
General information
Laboratory of Genetics in Ophthalmology
Institut Imagine
24 bd du Montparnasse
Paris
Ile-de-France
France - 75015
Organization ID: 507510
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 465
Gene
| Gene | Submissions | Last Updated |
|---|
| ADAM9 | 1 | Aug 7, 2023 |
| AHI1 | 5 | May 7, 2020 |
| AIPL1 | 18 | May 7, 2020 |
| ALMS1 | 31 | Aug 7, 2023 |
| ATF6 | 3 | May 7, 2020 |
| CACNA1F | 8 | May 11, 2020 |
| CEP290 | 1 | Aug 7, 2023 |
| CLN3 | 2 | May 11, 2020 |
| CNGA3 | 9 | May 11, 2020 |
| CNGB3 | 5 | May 11, 2020 |
| COL18A1 | 5 | May 11, 2020 |
| CRB1 | 76 | Aug 7, 2023 |
| CRX | 12 | May 13, 2020 |
| GIGYF2 | 4 | May 18, 2020 |
| GPATCH11 | 4 | Feb 14, 2024 |
| GPHN | 27 | May 25, 2020 |
| GUCY2D | 80 | May 15, 2020 |
| IQCB1 | 1 | Aug 7, 2023 |
| KCNJ13 | 4 | May 18, 2020 |
| KCNV2 | 1 | May 18, 2020 |
| LCA5 | 14 | Aug 7, 2023 |
| LOC126805613 | 5 | May 20, 2020 |
| LOC126806252 | 1 | May 7, 2020 |
| LOC126860392 | 1 | Aug 7, 2023 |
| LOC130056226 | 1 | May 27, 2020 |
| LRAT | 7 | May 18, 2020 |
| MSTO1 | 2 | Jun 30, 2022 |
| NMNAT1 | 35 | May 20, 2020 |
| PPT1 | 2 | May 25, 2020 |
| PROM1 | 3 | May 25, 2020 |
| RAB28 | 1 | Aug 7, 2023 |
| RD3 | 2 | May 25, 2020 |
| RDH12 | 27 | May 25, 2020 |
| RP1 | 1 | Aug 7, 2023 |
| RPE65 | 49 | May 26, 2020 |
| RPGRIP1 | 32 | Aug 7, 2023 |
| SLC19A1 | 1 | May 11, 2020 |
| SPATA7 | 10 | May 27, 2020 |
| TULP1 | 14 | May 27, 2020 |
| ZFYVE26 | 9 | May 25, 2020 |
Condition
| Name | Submissions | Last Updated | | Achromatopsia 2 | 9 | May 11, 2020 |
| Achromatopsia 3 | 5 | May 11, 2020 |
| Achromatopsia 7 | 3 | May 7, 2020 |
| Alstrom syndrome | 25 | Aug 7, 2023 |
| Cone dystrophy with supernormal rod response | 1 | May 18, 2020 |
| Cone-rod dystrophy 18 | 1 | Aug 7, 2023 |
| Cone-rod dystrophy 2 | 3 | May 25, 2020 |
| Cone-rod dystrophy 9 | 1 | Aug 7, 2023 |
| Congenital stationary night blindness 2A | 8 | May 11, 2020 |
| Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia | 4 | Feb 14, 2024 |
| Early-onset retinal dystrophy | 2 | May 15, 2020 |
| Joubert syndrome with ocular defect | 5 | May 7, 2020 |
| Leber congenital amaurosis 1 | 78 | May 15, 2020 |
| Leber congenital amaurosis 10 | 1 | Aug 7, 2023 |
| Leber congenital amaurosis 12 | 2 | May 25, 2020 |
| Leber congenital amaurosis 13 | 27 | May 25, 2020 |
| Leber congenital amaurosis 14 | 7 | May 18, 2020 |
| Leber congenital amaurosis 15 | 14 | May 27, 2020 |
| Leber congenital amaurosis 16 | 4 | May 18, 2020 |
| Leber congenital amaurosis 2 | 49 | May 26, 2020 |
| Leber congenital amaurosis 3 | 10 | May 27, 2020 |
| Leber congenital amaurosis 4 | 18 | May 7, 2020 |
| Leber congenital amaurosis 5 | 14 | Aug 7, 2023 |
| Leber congenital amaurosis 6 | 32 | Aug 7, 2023 |
| Leber congenital amaurosis 7 | 12 | May 13, 2020 |
| Leber congenital amaurosis 8 | 76 | Aug 7, 2023 |
| Leber congenital amaurosis 9 | 35 | May 20, 2020 |
| Neuronal ceroid lipofuscinosis 1 | 2 | May 25, 2020 |
| Occult maculopathy | 2 | May 7, 2020 |
| Retinal dystrophy, early-onset severe | 4 | May 7, 2020 |
| Retinitis pigmentosa 1 | 1 | Aug 7, 2023 |
| See cases | 2 | Jun 30, 2022 |
| Senior-Loken syndrome 5 | 1 | Aug 7, 2023 |
| early onset and severe retinal dystrophy | 7 | May 11, 2020 |
