| Approved symbol | PGK1 |
|---|---|
| Approved name | phosphoglycerate kinase 1 |
| HGCN ID | HGNC:8896 |
| Previous symbols | |
| Inheritance | |
| OMIM | 311800 |
| Chromosome | Xq21.1 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Muscle disorders NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
