Hereditary neuropathy
Gene: COX6A1
Only one reported variant in HGMD. Recessive gene but does have some frequency on gnomAD (0.004% 11/282348 alleles, no homz). 2 papers with same variant reported in 3 unrelated families: PMID:25152455, and PMID:26302975Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, recessive intermediate D, 616039
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on mode of inheritance: Only biallelic mutations reported 25152455Created: 8 Jul 2016, 3:28 a.m.
Comment on mode of inheritance: Reviewers indicated monoallelic, but OMIM indicates autosomal recessive, therefore selected "both" to cover both scenerios.Created: 4 May 2016, 9:46 a.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 4 May 2016, 9:45 a.m.
Added phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039 for gene: COX6A1 Publications for gene COX6A1 were changed from to 26302975; 25152455
Source South West GLH was added to COX6A1.
Source NHS GMS was added to COX6A1.
Source London North GLH was added to COX6A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COX6A1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COX6A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
COX6A1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen