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
-
- Skeletal dysplasia
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Hereditary neuropathy or pain disorder
- Paediatric motor neuronopathies
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Thoracic aortic aneurysm or dissection
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
- Hereditary neuropathy
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