Paediatric or syndromic cardiomyopathy
Gene: COX20
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
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: COX20; Suggested intial gene rating: Green; Information provided: 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 mode of inheritance: Confirmed on OMIM.Created: 10 Feb 2016, 11:59 a.m.
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 clinical diagnostic practice.Created: 10 Feb 2016, 11:57 a.m.
aka FAM36A;
two mutation reports in literatureCreated: 4 Feb 2016, 1:15 p.m.
Source Expert Review Amber was added to COX20. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
gene: COX20 was added gene: COX20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110