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  3. COX5A
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Mitochondrial disease

Gene: COX5A

Amber List (moderate evidence)
COX5A (cytochrome c oxidase subunit 5A)
EnsemblGeneIds (GRCh38): ENSG00000178741
EnsemblGeneIds (GRCh37): ENSG00000178741
OMIM: 603773, Gene2Phenotype
COX5A is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported, albeit hmz missense.
Created: 1 Sep 2023, 8:42 a.m. | Last Modified: 1 Sep 2023, 8:42 a.m.
Panel Version: 0.882

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064

Publications

Created: 25 Oct 2020, 9:44 a.m.
Last Modified: 25 Oct 2020, 9:44 a.m.
Panel version: 0.882

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family with a homozygous variant, with assays conducted in patient fibroblasts only.
Sources: NHS GMS
Created: 22 Mar 2020, 11:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency

Publications

Created: 22 Mar 2020, 11:27 p.m.

Panel version: 0.310

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064
  • pulmonary arterial hypertension
  • lactic acidemia
  • failure to thrive
  • isolated complex IV deficiency
OMIM
603773
Clinvar variants
Variants in COX5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX5A were set to 28247525; 35246835

1 Sep 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COX5A were set to 28247525

1 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox5a has been classified as Amber List (Moderate Evidence).

25 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COX5A were changed from pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cox5a has been classified as Red List (Low Evidence).

22 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COX5A was added gene: COX5A was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX5A were set to 28247525 Phenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency Review for gene: COX5A was set to RED