| Approved symbol | RPE65 |
|---|---|
| Approved name | retinoid isomerohydrolase RPE65 |
| HGCN ID | HGNC:10294 |
| Previous symbols | RP20 |
| Inheritance | |
| OMIM | 180069 |
| Chromosome | 1p31.3 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Congenital stationary nightblindness NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
