Likely inborn error of metabolism

Gene: COX6A2

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 12 Mar 2026, 10:16 a.m. | Last Modified: 12 Mar 2026, 10:16 a.m.

Panel Version: 8.94

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

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

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

• 31155743
• 23460811

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