Molecular Genetics of Human Eye Development (Oxford Brookes University), MGHE
General information
Personnel
- Dorine Bax, Staff
Phone: 01865484413
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 27
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALDH1A3 | 11 | Nov 30, 2022 |
| ALDH1A3-AS1 | 10 | Nov 30, 2022 |
| FGF14 | 2 | Sep 2, 2022 |
| GJA8 | 14 | May 17, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cataract 46 juvenile-onset | 8 | May 17, 2024 |
| Congenital primary aphakia | 1 | May 17, 2024 |
| Isolated microphthalmia 8 | 11 | Nov 30, 2022 |
| Microphthalmia, isolated, with cataract 1 | 5 | May 17, 2024 |
| Spinocerebellar ataxia type 27 | 2 | Sep 2, 2022 |