Mitochondrial disorders
Gene: COA6EnsemblGeneIds (GRCh38): ENSG00000168275
EnsemblGeneIds (GRCh37): ENSG00000168275
OMIM: 614772, Gene2Phenotype
COA6 is in 7 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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
- Tags
- OMIM
- 614772
- Clinvar variants
- Variants in COA6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: coa6 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: COA6 were set to
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)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)
Added Tag
Ellen McDonagh (Genomics England Curator)Tag treatable tag was added to gene: COA6.
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COA6. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COA6 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COA6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen