| Approved symbol | PRPS1 |
|---|---|
| Approved name | phosphoribosyl pyrophosphate synthetase 1 |
| HGCN ID | HGNC:9462 |
| Previous symbols | DFN2 |
| Inheritance | |
| OMIM | 311850 |
| Chromosome | Xq22.3 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Epilepsy NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Muscle disorders NGS Neuropathy/Charcot Marie Tooth NGS Primary immunodeficiency PID NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
