Approved symbol | COL11A1 |
---|---|
Approved name | collagen type XI alpha 1 chain |
HGCN ID | HGNC:2186 |
Previous symbols | COLL6, DFNA37 |
Inheritance | |
OMIM | 120280 |
Chromosome | 1p21.1 |
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 Stickler syndrome and related disorders NGS Vision disorder CSNB |