This Panel is marked as Internal
Moyamoya disease
Gene: ATP7A
ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 20 panels
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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
-
- Expert list
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- Complete
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Paediatric motor neuronopathies
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- DDG2P
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection (GMS)
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Thoracic aortic aneurysm or dissection
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
30 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATP7A was created by ellenmcdonagh
30 Mar 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATP7A was added to Moyamoya diseasepanel. Sources: Expert list