Approved symbol | PNPLA6 |
---|---|
Approved name | patatin like phospholipase domain containing 6 |
HGCN ID | HGNC:16268 |
Previous symbols | |
Inheritance | |
OMIM | 603197 |
Chromosome | 19p13.2 |
Panel(s) |
NGS Bewegingsstoornissen NGS Cone-rod dystrophie en macula degeneratie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Skeletdysplasie NGS Visus pakket Retinale genen |