Approved symbol | NPHP1 |
---|---|
Approved name | nephrocystin 1 |
HGCN ID | HGNC:7905 |
Previous symbols | NPH1 |
Inheritance | |
OMIM | 607100 |
Chromosome | 2q13 |
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 Vision disorder CSNB |