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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported, albeit hmz missense.
Created: 1 Sep 2023, 9:22 a.m. | Last Modified: 1 Sep 2023, 9:22 a.m.
Panel Version: 1.1133
Single family reported.
Sources: Expert list
Created: 12 Apr 2020, 7:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
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 2824752

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

12 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).

12 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COX5A was added gene: COX5A was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX5A were set to 2824752 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