Approved symbol | ALMS1 |
---|---|
Approved name | ALMS1 centrosome and basal body associated protein |
HGCN ID | HGNC:428 |
Previous symbols | |
Inheritance | |
OMIM | 606844 |
Chromosome | 2p13.1 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Skeletal Dysplasia NGS Vision disorder CSNB |