Mitochondrial disorders

Gene: COX14

I don't know

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

Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:38 p.m.

Panel Version: 3.6

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

I don't know

In response to Zornitza Stark's (Australian Genomics), review 18 Mar 2020: that only a single COX14 variant has been published in cases of Fatal Neonatal Lactic Acidosis (PMID:22243966), it would be beneficial to recieve confirmation from the NHS that COX14 is still used in standard diagnostic practice.

Created: 23 May 2022, 1:01 p.m. | Last Modified: 23 May 2022, 1:42 p.m.

Panel Version: 2.105

Publications

• 22243966

I don't know

Single family with multiple affecteds described, does not meet criteria for Green.

Created: 18 Mar 2020, 7:12 a.m. | Last Modified: 18 Mar 2020, 7:12 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, MIM#220110

Publications

• 22243966

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