Hereditary neuropathy or pain disorder
Gene: ATP7AEnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 19 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Mainly associated with Menkes disease or occipital horn syndrome but 2 reports of isolated adult-onset distal motor neuropathy. In Bristol C3s only. PMID:20170900 - Two families with missense mutations in patient with X-linked distal hereditary motor neuropathy and no overt signs of systemic copper deficiency (convincing segregation)Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hereditary Neuropathies
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from amber to green due to agreement from 4 reviewers.Created: 4 May 2016, 8:30 a.m.
Comment on mode of inheritance: Source: OMIM and G2P.Created: 4 May 2016, 8:29 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Thoracic aortic aneurysm or dissection (GMS)
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Inherited white matter disorders
- Intellectual disability
- Fetal anomalies
- Cerebral vascular malformations
- DDG2P
- Pneumothorax - familial
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Thoracic aortic aneurysm or dissection
- Paediatric motor neuronopathies
- Early onset or syndromic epilepsy
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
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 Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH 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 20170900 Phenotypes for gene: ATP7A were set to Hereditary Neuropathies