Mitochondrial disorders
Gene: COA6Comment 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.
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.
Phenotypes for gene: COA6 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Gene: coa6 has been classified as Green List (High Evidence).
Phenotypes for gene: COA6 were changed from ?{Fatal infantile cardiomyopathy, association with}, 604377 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Publications for gene: COA6 were set to
Source NHS GMS was added to COA6. Source Expert Review Green was added to COA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag treatable tag was added to gene: COA6.
Victorian Clinical Genetics Services was added to COA6. Panel: Mitochondrial disorders
Mode of inheritance for COA6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
COA6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen