Hereditary neuropathy
Gene: ATP7A
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
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.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
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.
Added phenotypes Hereditary Neuropathies for gene: ATP7A Publications for gene ATP7A were changed from to 20170900
Source South West GLH was added to ATP7A.
Source NHS GMS was added to ATP7A.
Source London North GLH was added to ATP7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ATP7A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
ATP7A was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
ATP7A was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
ATP7A was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory