Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: COX5A

Red List (low evidence)

COX5A (cytochrome c oxidase subunit 5A)
EnsemblGeneIds (GRCh38): ENSG00000178741
EnsemblGeneIds (GRCh37): ENSG00000178741
OMIM: 603773, Gene2Phenotype
COX5A is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Candidate gene therefore on the red list.
Created: 26 Feb 2016, 4:59 p.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature;

good candidate gene for complex IV deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 1:18 p.m.


Mode of Inheritance
  • No OMIM phenotype
Clinvar variants
Variants in COX5A
Panels with this gene

History Filter Activity

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

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

Ellen McDonagh (Genomics England Curator)

gene: COX5A was added gene: COX5A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX5A was set to Unknown Phenotypes for gene: COX5A were set to No OMIM phenotype