Cerebral vascular malformations
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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationCreated: 12 Dec 2016, 2:37 p.m.
Not associated with cerebral vascular malformationCreated: 12 Dec 2016, 2:37 p.m.
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
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Expert list
- Phenotypes
-
- Moyamoya disease
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Paediatric motor neuronopathies
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Pneumothorax - familial
- Inherited white matter disorders
- Fetal anomalies
- Skeletal dysplasia
- Likely inborn error of metabolism
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Thoracic aortic aneurysm or dissection
- Neurodegenerative disorders, adult onset
- DDG2P
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ATP7A.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATP7A.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
12 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
2 Nov 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATP7A was added to Cerebrovascular disorderspanel. Sources: Expert list
2 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATP7A was created by ellenmcdonagh