Approved symbol | PHYH |
---|---|
Approved name | phytanoyl-CoA 2-hydroxylase |
HGCN ID | HGNC:8940 |
Previous symbols | |
Inheritance | |
OMIM | 602026 |
Chromosome | 10p13 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Movement disorders NGS Neuropathy/Charcot Marie Tooth NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB NGS White matter disease |