Approved symbol | ATP7A |
---|---|
Approved name | ATPase copper transporting alpha |
HGCN ID | HGNC:869 |
Previous symbols | MNK |
Inheritance | |
OMIM | 300011 |
Chromosome | Xq21.1 |
Panel(s) |
NGS Cutis laxa en gerelateerde aandoeningen NGS Epilepsie NGS Foetale akinesie-deformatiesequentie FADS NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Neuropathy/Charcot Marie Tooth NGS Spieraandoeningen |