Inherited white matter disorders
Gene: ATP7A
ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:01 p.m.
Zornitza Stark (Australian Genomics)
White matter changes are a well-described feature of this metabolic disorder.Created: 7 Sep 2018, 7:16 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes disease, MIM#309400
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
-
- Rare genetic inflammatory skin disorders
- Hereditary neuropathy
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Inherited white matter disorders
- Cerebral vascular malformations
- Pneumothorax - familial
- Likely inborn error of metabolism
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
19 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp7a has been classified as Red List (Low Evidence).
7 Sep 2018, Gel status: 0
Added New Source
Zornitza Stark (Australian Genomics)ATP7A was added to Inherited white matter disorders panel. Sources: Expert list
7 Sep 2018, Gel status: 0
Created
Zornitza Stark (Australian Genomics)ATP7A was created by Zornitza Stark