| Approved symbol | MMACHC |
|---|---|
| Approved name | metabolism of cobalamin associated C |
| HGCN ID | HGNC:24525 |
| Previous symbols | |
| Inheritance | |
| OMIM | 609831 |
| Chromosome | 1p34.1 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB NGS White matter disease |
