Hereditary neuropathy or pain disorder
Gene: COX6A1EnsemblGeneIds (GRCh38): ENSG00000111775
EnsemblGeneIds (GRCh37): ENSG00000111775
OMIM: 602072, Gene2Phenotype
COX6A1 is in 9 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
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
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)
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Richard Scott (Genomics England Curator)
Comment on mode of inheritance: Only biallelic mutations reported 25152455Created: 8 Jul 2016, 3:28 a.m.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Charcot Marie Tooth disease, recessive intermediate D, 616039
- OMIM
- 602072
- Clinvar variants
- Variants in COX6A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COX6A1 was added gene: COX6A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6A1 were set to 26302975; 25152455 Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039