Mitochondrial disorders
Gene: COA5Comment on list classification: No additional variants have been reported to date.Created: 30 Apr 2019, 10:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
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
Mode of inheritance for gene: COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: coa5 has been classified as Red List (Low Evidence).
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
Publications for gene: COA5 were set to
Victorian Clinical Genetics Services was added to COA5. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
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
This gene has been classified as Red List (Low Evidence).
COA5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COA5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COA5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen