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  3. COA5
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Cardiomyopathy_Paediatric

Gene: COA5

Red List (low evidence)
COA5 (cytochrome c oxidase assembly factor 5)
EnsemblGeneIds (GRCh38): ENSG00000183513
EnsemblGeneIds (GRCh37): ENSG00000183513
OMIM: 613920, Gene2Phenotype
COA5 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 29 Oct 2021, 6:34 a.m. | Last Modified: 29 Oct 2021, 6:34 a.m.
Panel Version: 0.108

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500

Publications

Created: 29 Oct 2021, 6:34 a.m.
Last Modified: 29 Oct 2021, 6:34 a.m.
Panel version: 0.108

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
OMIM
613920
Clinvar variants
Variants in COA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coa5 has been classified as Red List (Low Evidence).

29 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COA5 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500

29 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coa5 has been classified as Red List (Low Evidence).

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COA5 was added gene: COA5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA5 were set to 27604308 Phenotypes for gene: COA5 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3