Adult onset neurodegenerative disorder
Gene: ATP7AEnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 20 panels
1 review
Oliver Ziff (University College London)
Specific missense variants cause X-linked distal motor neuropathy (SMAX3), mimicking adult LMN disease without systemic Menkes features. Needs inclusion in R460.1 to prevent R78 reanalysis.
Sources: Expert Review, LiteratureCreated: 22 May 2026, 1:35 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Spinal muscular atrophy, X-linked 3, distal, OMIM:300489
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Phenotypes
-
- Spinal muscular atrophy, X-linked 3, distal, OMIM:300489
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Thoracic aortic aneurysm or dissection (GMS)
- Ehlers Danlos syndrome with a likely monogenic cause
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Pneumothorax - familial
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hereditary neuropathy
- Skeletal dysplasia
- Intellectual disability
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- DDG2P
- Thoracic aortic aneurysm or dissection
- Likely inborn error of metabolism
- Cerebral vascular malformations
- Early onset or syndromic epilepsy
- Fetal anomalies
- Rare genetic inflammatory skin disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Oliver Ziff (University College London)gene: ATP7A was added gene: ATP7A was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ATP7A were set to 20170900 Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, X-linked 3, distal, OMIM:300489 Penetrance for gene: ATP7A were set to Complete Mode of pathogenicity for gene: ATP7A was set to Other Review for gene: ATP7A was set to GREEN gene: ATP7A was marked as current diagnostic