Mitochondrial disorders
Gene: COA5EnsemblGeneIds (GRCh38): ENSG00000183513
EnsemblGeneIds (GRCh37): ENSG00000183513
OMIM: 613920, Gene2Phenotype
COA5 is in 9 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: No additional variants have been reported to date.Created: 30 Apr 2019, 10:53 a.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Does not seem to be enough evidence at the current time for this gene to be green.Created: 26 Feb 2016, 4:04 p.m.
Comment on list classification: Only one family report, a possible DD gene, has a question mark by the phenotype in OMIM as only seen in one family.Created: 26 Feb 2016, 4:02 p.m.
Shamima Rahman (UCL Institute of Child Health)
aka C2orf64;
single mutation report in literature - two siblings, born of consanguineous Turkish parents, affected by fatal neonatal cardiomyopathyCreated: 4 Feb 2016, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
- OMIM
- 613920
- Clinvar variants
- Variants in COA5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: coa5 has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: COA5 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: COA5 were set to
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COA5. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COA5 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COA5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COA5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COA5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen