| Approved symbol | COL2A1 |
|---|---|
| Approved name | collagen type II alpha 1 chain |
| HGCN ID | HGNC:2200 |
| Previous symbols | SEDC, AOM |
| Inheritance | |
| OMIM | 120140 |
| Chromosome | 12q13.11 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Retinitis pigmentosa NGS Skeletal Dysplasia NGS Stickler syndrome and related disorders NGS Vision disorder CSNB |
