Mitochondrial disorders
Gene: COX14
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
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
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
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.
aka C12orf62;
single mutation report in literatureCreated: 4 Feb 2016, 1:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_22_rating was removed from gene: COX14. Tag Q2_22_expert_review was removed from gene: COX14.
Source Expert Review Amber was added to COX14. Source NHS GMS was added to COX14. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q2_21_rating was removed from gene: COX14. Tag Q2_22_rating tag was added to gene: COX14.
Tag Q2_21_rating tag was added to gene: COX14. Tag Q2_22_expert_review tag was added to gene: COX14.
Publications for gene: COX14 were set to PMID: 22243966
Victorian Clinical Genetics Services was added to COX14. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for COX14 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110
Mode of inheritance for COX14 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for COX14 were set to PMID: 22243966
COX14 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COX14 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COX14 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen