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 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 Skeletdysplasie NGS Visus pakket Retinale genen |