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  3. COX6A2
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Likely inborn error of metabolism

Gene: COX6A2

Amber List (moderate evidence)
COX6A2 (cytochrome c oxidase subunit 6A2)
EnsemblGeneIds (GRCh38): ENSG00000156885
EnsemblGeneIds (GRCh37): ENSG00000156885
OMIM: 602009, Gene2Phenotype
COX6A2 is in 5 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene should be added with green rating to this panel as this gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX6A2/)
Created: 6 Jun 2025, 3:45 p.m. | Last Modified: 6 Jun 2025, 3:45 p.m.
Panel Version: 8.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Jun 2025, 3:43 p.m.
Last Modified: 6 Jun 2025, 3:43 p.m.
Panel version: 8.18

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least two unrelated cases harbouring different biallelic variants in this gene (PMID: 31155743) and presenting with a consistent phenotype of congenital myopathy. Functional studies and two mouse models are supportive of pathogenicity (PMID: 23460811; 31155743; 32744742)
Created: 25 Aug 2022, 10:14 a.m. | Last Modified: 25 Aug 2022, 10:14 a.m.
Panel Version: 2.122
Created: 25 Aug 2022, 10:14 a.m.
Last Modified: 25 Aug 2022, 10:14 a.m.
Copied from panel: Mitochondrial disorders v9.15

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families and two mouse models.
Created: 19 Mar 2020, 9:16 a.m. | Last Modified: 19 Mar 2020, 9:16 a.m.
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, MIM# 220110

Publications

Created: 19 Mar 2020, 9:16 a.m.
Last Modified: 19 Mar 2020, 9:16 a.m.
Copied from panel: Mitochondrial disorders v9.15

Sarah Leigh (Genomics England Curator)

I don't know

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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Copied from panel: Mitochondrial disorders v9.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Tags
Q2_25_ promote_green
OMIM
602009
Clinvar variants
Variants in COX6A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: cox6a2 has been classified as Amber List (Moderate Evidence).

6 Jun 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: COX6A2.

6 Jun 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: COX6A2 was added gene: COX6A2 was added to Likely inborn error of metabolism. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6A2 were set to 23460811; 31155743; 32744742 Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062