Moosajee Lab (UCL Institute of Ophthalmology)
General information
Moosajee Lab
UCL Institute of Ophthalmology
London
London, City of
United Kingdom - EC1V 9EL
https://www.ucl.ac.uk/ioo/
Organization ID: 507479
UCL Institute of Ophthalmology
London
London, City of
United Kingdom - EC1V 9EL
https://www.ucl.ac.uk/ioo/
Organization ID: 507479
Personnel
- Mariya Moosajee, Principal Investigator
Phone: 020 7608 6800
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 2 | Jun 3, 2020 |
| AGBL5 | 1 | Jun 3, 2020 |
| CNGB1 | 2 | Jun 3, 2020 |
| CRB1 | 1 | Jul 23, 2020 |
| CYP1B1 | 3 | May 23, 2024 |
| FOXC1 | 3 | May 23, 2024 |
| GIGYF2 | 1 | Jun 3, 2020 |
| GPHN | 1 | Mar 17, 2020 |
| HESX1 | 1 | Jun 3, 2020 |
| IFT172 | 1 | Jun 3, 2020 |
| KCNJ13 | 1 | Jun 3, 2020 |
| LOC128772254 | 1 | May 23, 2024 |
| LOC129995601 | 1 | May 23, 2024 |
| OCA2 | 1 | Jun 3, 2020 |
| PCARE | 1 | Jun 3, 2020 |
| RDH12 | 1 | Mar 17, 2020 |
| SBF2 | 1 | May 23, 2024 |
| TEK | 2 | May 22, 2024 |
| ZFYVE26 | 1 | Mar 17, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Anterior segment dysgenesis 3 | 1 | May 23, 2024 |
| Anterior segment dysgenesis 6 | 2 | May 23, 2024 |
| Axenfeld-Rieger syndrome type 3 | 2 | May 23, 2024 |
| Charcot-Marie-Tooth disease type 4B2 | 1 | May 23, 2024 |
| Cone-rod dystrophy 3 | 2 | Jun 3, 2020 |
| Glaucoma 3, primary congenital, E | 2 | May 22, 2024 |
| Glaucoma 3A | 3 | May 23, 2024 |
| Leber congenital amaurosis 16 | 1 | Jun 3, 2020 |
| Retinitis pigmentosa | 1 | Mar 17, 2020 |
| Retinitis pigmentosa 12 | 1 | Jul 23, 2020 |
| Retinitis pigmentosa 45 | 2 | Jun 3, 2020 |
| Retinitis pigmentosa 54 | 1 | Jun 3, 2020 |
| Retinitis pigmentosa 71 | 1 | Jun 3, 2020 |
| Retinitis pigmentosa 75 | 1 | Jun 3, 2020 |
| Septo-optic dysplasia sequence | 1 | Jun 3, 2020 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Jun 3, 2020 |