| Approved symbol | PCYT1A |
|---|---|
| Approved name | phosphate cytidylyltransferase 1A, choline |
| HGCN ID | HGNC:8754 |
| Previous symbols | PCYT1 |
| Inheritance | |
| OMIM | 123695 |
| Chromosome | 3q29 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Skeletal Dysplasia NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
