Possible mitochondrial disorder - nuclear genes

Gene: COX14

I don't know

The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.

Created: 12 Dec 2025, 11 a.m. | Last Modified: 12 Dec 2025, 11 a.m.

Panel Version: 4.17

I don't know

Comment on list classification: This gene has also been demoted from green to amber on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX14/) in response to review from Zornitza Stark (Australian Genomics), and in agreement with the NHS Genomic Medicine Service. Hence, this gene is recommended for demotion on this panel and opinion is being sought from the NHS mitochondrial specialist teams on this.

Created: 6 Jun 2025, 11:40 a.m. | Last Modified: 6 Jun 2025, 11:40 a.m.

Panel Version: 4.4

PMID:22243966 reported one family with a homozygous missense COX14 (C12orf62) variant presenting with severe congenital lactic acidosis and dysmorphic features. There is also functional evidence available in support of the association. However, there is no additional evidence associating this gene to disease in humans. Hence, this gene should be rated amber with the available evidence.

This gene is rated amber on the Mitochondrial disease panel in PanelApp Australia (https://panelapp-aus.org/panels/203/gene/COX14/) It is tentatively associated with a disease phenotype in OMIM (MIM #619053) and has limited rating on the DD panel in Gene2Phenotype database.

Created: 6 Jun 2025, 11:38 a.m. | Last Modified: 6 Jun 2025, 11:39 a.m.

Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053

Publications

• 22243966

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
?Mitochondrial complex IV deficiency, 220110

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Comment on list classification: Both reviewers agree this should be promoted from red to green, and one reports variants within this gene as part of diagnostic practice. It is a possible DD gene for mitochondrial complex IV deficiency.

Created: 10 Feb 2016, 11:55 a.m.

Comment on mode of inheritance: Confirmed on OMIM and G2P.

Created: 10 Feb 2016, 11:53 a.m.

Green List (high evidence)

aka C12orf62;

single mutation report in literature

Created: 4 Feb 2016, 1:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal