Hereditary neuropathy
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
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Rare genetic inflammatory skin disorders
- Hereditary neuropathy
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Cerebral vascular malformations
- Pneumothorax - familial
- Likely inborn error of metabolism
- Paediatric motor neuronopathies
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Skeletal dysplasia
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: ATP7A Publications for gene ATP7A were changed from to 20170900
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ATP7A.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATP7A.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to ATP7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATP7A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ATP7A was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)ATP7A was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)ATP7A was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory