Paediatric or syndromic cardiomyopathy
Gene: COX14
Single family with multiple affecteds described.Created: 25 Oct 2020, 8:52 a.m. | Last Modified: 25 Oct 2020, 8:52 a.m.
Panel Version: 1.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:12 p.m. | Last Modified: 3 Mar 2022, 1:12 p.m.
Panel Version: 1.65
This gene is associated with a phenotype in OMIM and Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. It is recommended that this gene should be demoted to Amber/Red at the next review.Created: 16 Apr 2021, 7:47 a.m. | Last Modified: 16 Apr 2021, 7:47 a.m.
Panel Version: 1.21
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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. Gene Symbol submitted: COX14; Suggested intial gene rating: Green. Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex IV deficiency, 220110
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_21_rating was removed from gene: COX14.
Source Expert Review Amber was added to COX14. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: COX14 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, OMIM:220110
Tag Q2_21_rating tag was added to gene: COX14.
Publications for gene: COX14 were set to
gene: COX14 was added gene: COX14 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110