Approved symbol | MVK |
---|---|
Approved name | mevalonate kinase |
HGCN ID | HGNC:7530 |
Previous symbols | |
Inheritance | |
OMIM | 251170 |
Chromosome | 12q24.11 |
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 Primaire immunodeficientie PID NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |