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  3. COA5
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Likely inborn error of metabolism

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 9 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment 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
Created: 30 Apr 2019, 10:53 a.m.
Last Modified: 27 Sep 2019, 3:21 p.m.
Panel version: Imported from Mitochondrial disorders panel version 1.235

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

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.
Created: 26 Feb 2016, 4:02 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.359

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

aka C2orf64;
single mutation report in literature - two siblings, born of consanguineous Turkish parents, affected by fatal neonatal cardiomyopathy
Created: 4 Feb 2016, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2016, 1:02 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance
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
OMIM
613920
Clinvar variants
Variants in COA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

27 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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)

27 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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)

27 Sep 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COA5 were set to 27604308

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COA5. Source London North GLH was added to COA5.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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