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 and related disorders NGS Epilepsy NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Mendeliome NGS Muscle disorders NGS Neuropathy/Charcot Marie Tooth NGS Treatable metabolic neurodegenerative disorders |