Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: COX5A

Amber List (moderate evidence)

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

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 sibs) and functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Publications

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 1:31 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 2:27 p.m.
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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
OMIM
603773
Clinvar variants
Variants in COX5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COX5A was added gene: COX5A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,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, and failure to thrive