Approved symbol | AMACR |
---|---|
Approved name | alpha-methylacyl-CoA racemase |
HGCN ID | HGNC:451 |
Previous symbols | |
Inheritance | |
OMIM | 604489 |
Chromosome | 5p13.2 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Epilepsy 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 |