Approved symbol | PEX5 |
---|---|
Approved name | peroxisomal biogenesis factor 5 |
HGCN ID | HGNC:9719 |
Previous symbols | PXR1 |
Inheritance | |
OMIM | 600414 |
Chromosome | 12p13.31 |
Panel(s) |
NGS Epilepsy NGS Intellectual disability NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Skeletal Dysplasia NGS Treatable metabolic neurodegenerative disorders NGS White matter disease |