Approved symbol | MVK |
---|---|
Approved name | mevalonate kinase |
HGCN ID | HGNC:7530 |
Previous symbols | |
Inheritance | |
OMIM | 251170 |
Chromosome | 12q24.11 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Movement disorders NGS Preconception panel (for consanguineous couples) NGS Primary immunodeficiency PID NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |