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Hereditary neuropathy NOT PMP22 copy number

Gene: COX6A1

Green List (high evidence)

COX6A1 (cytochrome c oxidase subunit 6A1)
EnsemblGeneIds (GRCh38): ENSG00000111775
EnsemblGeneIds (GRCh37): ENSG00000111775
OMIM: 602072, Gene2Phenotype
COX6A1 is in 10 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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:26302975
Created: 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)

I don't know

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)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Richard Scott (Genomics England Curator)

Comment on mode of inheritance: Only biallelic mutations reported 25152455
Created: 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

History Filter Activity

5 Dec 2019, Gel status: 3

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