| Approved symbol | PEX1 |
|---|---|
| Approved name | peroxisomal biogenesis factor 1 |
| HGCN ID | HGNC:8850 |
| Previous symbols | ZWS1, ZWS |
| Inheritance | |
| OMIM | 602136 |
| Chromosome | 7q21.2 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Epilepsy NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Neuropathy/Charcot Marie Tooth NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB NGS White matter disease |
