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 dystrophie en macula degeneratie NGS Epilepsie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Neuropathy/Charcot Marie Tooth NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Visus pakket Retinale genen NGS Wittestofziekten |