Mitochondrial disorders
Gene: COX6A1
COX6A1 (cytochrome c oxidase subunit 6A1)
EnsemblGeneIds (GRCh38): ENSG00000111775
EnsemblGeneIds (GRCh37): ENSG00000111775
OMIM: 602072, Gene2Phenotype
COX6A1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000111775
EnsemblGeneIds (GRCh37): ENSG00000111775
OMIM: 602072, Gene2Phenotype
COX6A1 is in 9 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Overall rated green by four reviewers.Created: 26 Feb 2016, 5:09 p.m.
Comment on mode of inheritance: Affected patients were homozygous for a 5bp deletion reported in PMID: 25152455.Created: 26 Feb 2016, 5:08 p.m.
Comment on list classification: Rated green on this panel, and green by 3 reviewers on the Charcot-Marie Tooth panel, therefore promoted from red to green.Created: 26 Feb 2016, 5:02 p.m.
Shamima Rahman (UCL Institute of Child Health)
two reports in literatureCreated: 4 Feb 2016, 1:22 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Charcot-Marie-Tooth disease, recessive intermediate D, 616039
- OMIM
- 602072
- Clinvar variants
- Variants in COX6A1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorder with complex IV deficiency
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COX6A1. Panel: Mitochondrial disorders
26 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 Feb 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COX6A1 was changed to BIALLELIC, autosomal or pseudoautosomal
26 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COX6A1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen