| Approved symbol | MTRFR |
|---|---|
| Approved name | mitochondrial translation release factor in rescue |
| HGCN ID | HGNC:26784 |
| Previous symbols | C12orf65 |
| Inheritance | |
| OMIM | 613541 |
| Chromosome | 12q24.31 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Movement disorders NGS Optic atrophy NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Vision disorder CSNB |
