Likely inborn error of metabolism
Gene: COX5A

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.

Panel Version: 5.3

To date, two COX5A variants have been associated with Mitochondrial complex IV deficiency, nuclear type 20 (OMIM:619064) in two unrelated cases (PMID: 28247525;35246835). Analysis of patient fibroblasts has revealed a reduced enzymatic activity and protein levels of complex IV and several of its subunits, plus, lentiviral complementation rescues the complex IV deficiency (PMID: 28247525;35246835).
Created: 9 Jan 2024, 12:36 p.m. | Last Modified: 9 Jan 2024, 12:36 p.m.

Panel Version: 4.122

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jan 2024, 11:02 a.m. | Last Modified: 9 Jan 2024, 11:02 a.m.

Panel Version: 4.122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 9 Jan 2024, 11:02 a.m.
Last Modified: 9 Jan 2024, 11:02 a.m.
Panel version: 5.3

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.

Created: 26 Feb 2016, 4:59 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.374

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.

Created: 4 Feb 2016, 1:18 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064
Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520

OMIM

603773

Clinvar variants

Variants in COX5A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: COX5A.

4 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to COX5A. Source NHS GMS was added to COX5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Jan 2024, Gel status: 2