| 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 dystrophie en macula degeneratie NGS Epilepsie NGS Foetale akinesie-deformatiesequentie FADS NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Neuropathy/Charcot Marie Tooth NGS Primaire immunodeficientie PID NGS Retinitis pigmentosa NGS Spieraandoeningen NGS Visus pakket Retinale genen |
