Approved symbol | P3H2 |
---|---|
Approved name | prolyl 3-hydroxylase 2 |
HGCN ID | HGNC:19317 |
Previous symbols | LEPREL1 |
Inheritance | |
OMIM | 610341 |
Chromosome | 3q28 |
Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Leber congenital amaurosis LCA NGS Lens luxatie en gerelateerde syndromen NGS Mendelioom NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Stickler syndroom en gerelateerde aandoeningen NGS Visus pakket Retinale genen |