Likely inborn error of metabolism - targeted testing not possible
Gene: COA5Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and as a possible G2P. At least 1 variant reported.Created: 30 Apr 2019, 10:53 a.m. | Last Modified: 27 Sep 2019, 3:21 p.m.
Panel Version: 1.311
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
Phenotypes for gene: COA5 were changed from ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Phenotypes for gene: COA5 were changed from ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Phenotypes for gene: COA5 were changed from ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Publications for gene: COA5 were set to 27604308
Source NHS GMS was added to COA5. Source London North GLH was added to COA5.
Sarah Leigh: Associated with phenotype in O
Added phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COA5 Publications for gene COA5 were changed from to 27604308
gene: COA5 was added gene: COA5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency