| Approved symbol | P3H2 |
|---|---|
| Approved name | prolyl 3-hydroxylase 2 |
| HGCN ID | HGNC:19317 |
| Previous symbols | LEPREL1 |
| Inheritance | |
| OMIM | 610341 |
| Chromosome | 3q28 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Leber’s congenital amaurosis LCA NGS Lens luxation and related syndromes NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Stickler syndrome and related disorders NGS Vision disorder CSNB |
