Approved symbol | NPHP1 |
---|---|
Approved name | nephrocystin 1 |
HGCN ID | HGNC:7905 |
Previous symbols | NPH1 |
Inheritance | |
OMIM | 607100 |
Chromosome | 2q13 |
Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |