COA5

cytochrome c oxidase assembly factor 5
OMIM: 613920, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red COA5 in Hypertrophic cardiomyopathy - teen and adult Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.41 Latest signed off version: v2.11 (15 Oct 2020) Component of the following Super Panels: Sudden cardiac death	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM
Amber COA5 in Mitochondrial disorder with complex IV deficiency Version 1.16 Latest signed off version: v1.2 (17 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Red COA5 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.542	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Red COA5 in Inborn errors of metabolism Version 2.263 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Amber COA5 in Possible mitochondrial disorder - nuclear genes Version 1.94 Latest signed off version: v1.17 (11 Nov 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Red COA5 in DDG2P Version 2.78 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Red COA5 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1677 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 MITOCHONDRIAL COMPLEX IV DEFICIENCY
Red COA5 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.117 Latest signed off version: v2.4 (17 Feb 2020) Component of the following Super Panels: White matter disorders - childhood onset	review	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
Green COA5 in Cardiomyopathies - including childhood onset Version 1.77 Latest signed off version: v1.4 (19 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Isolated complex IV deficiency Mitochondrial complex IV deficiency, 220110 Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) syndromic HCM ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3