Paediatric or syndromic cardiomyopathy
Gene: CYC1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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: CYC1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 6, 615453
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 5:19 p.m.
Comment on list classification: Promoted from red to green due to expert review and it is a confirmed DD gene.Created: 26 Feb 2016, 5:19 p.m.
Source Expert Review Red was added to CYC1. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: CYC1 was added gene: CYC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453