White matter disorders and cerebral calcification - narrow panel
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, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Menkes disease, MIM#309400
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection (GMS)
- Likely inborn error of metabolism
- Ehlers Danlos syndrome with a likely monogenic cause
- Undiagnosed metabolic disorders
- DDG2P
- 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
- Fetal anomalies
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Cerebral vascular malformations
- Rare genetic inflammatory skin disorders
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ATP7A was added gene: ATP7A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 28495946; 28495940 Phenotypes for gene: ATP7A were set to Menkes disease, MIM#309400