Hereditary neuropathy or pain disorder
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.
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