Inherited Eye Disorders lab (UCL Institute of Ophthalmology), IED
General information
Inherited Eye Disorders lab, IED
UCL Institute of Ophthalmology
London
United Kingdom
https://www.ucl.ac.uk/ioo/
Organization ID: 506853
UCL Institute of Ophthalmology
London
United Kingdom
https://www.ucl.ac.uk/ioo/
Organization ID: 506853
Personnel
- Elena Schiff, Genetic Counselor
Phone: 07967743276
Email: e.schiff@ucl.ac.uk - Raquel Silva, Staff
Phone: 020 7608 6971
Email: raquel_sofi@icloud.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CFAP20 | 6 | Jul 29, 2022 |
| HGSNAT | 8 | Jul 2, 2020 |
| LOC111365204 | 2 | Jan 18, 2019 |
| PRPH2 | 1 | Apr 23, 2019 |
| SLC38A8 | 4 | Dec 16, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 4 | Dec 16, 2020 |
| North Carolina macular dystrophy | 1 | Jan 18, 2019 |
| Patterned macular dystrophy 1 | 1 | Apr 23, 2019 |
| Progressive bifocal chorioretinal atrophy | 2 | Jan 18, 2019 |
| Retinitis pigmentosa 73 | 8 | Jul 2, 2020 |
| Rod-cone dystrophy | 6 | Jul 29, 2022 |