Possible mitochondrial disorder - nuclear genes
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
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, recessive intermediate D, 616039
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Charcot-Marie-Tooth disease, recessive intermediate D, 616039
- OMIM
- 602072
- Clinvar variants
- Variants in COX6A1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Undiagnosed metabolic disorders
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: COX6A1 was added gene: COX6A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039