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Inborn errors of metabolism

Gene: COA6

Green List (high evidence)

COA6 (cytochrome c oxidase assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000168275
EnsemblGeneIds (GRCh37): ENSG00000168275
OMIM: 614772, Gene2Phenotype
COA6 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 cases from 2 unrelated families and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex IV deficiency (Version 0.40).
Created: 23 May 2019, 1:08 p.m.

Ellen McDonagh (Genomics England Curator)

Added the 'treatable' tag, as in PMID: 24549041 as copper supplement rescues respiratory and complex IV assembly defects in knockout yeast cells, and could be a potential treatment.
Created: 10 May 2019, 11:48 a.m.
Comment on mode of inheritance: Confirmed on OMIM.
Created: 26 Feb 2016, 4:30 p.m.
2 seperate cases reported in OMIM, with functional data to support a defect caused by the mutation.
Created: 26 Feb 2016, 4:23 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • ?{Fatal infantile cardiomyopathy, association with}, 604377
OMIM
614772
Clinvar variants
Variants in COA6
Penetrance
None
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: coa6 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: COA6 was added gene: COA6 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA6 were set to ?{Fatal infantile cardiomyopathy, association with}, 604377