Sudden cardiac death - previous panel
Gene: PRKAG2
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 61 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 6 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, familial hypertrophic 6 (600858); Glycogen storage disease of heart, lethal congenital (261740); Wolff-Parkinson-White syndrome (194200)
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: PRKAG2 was added gene: PRKAG2 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 27532257; 28369730 Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, familial hypertrophic 6,; syndromic HCM; Wolff-Parkinson-White syndrome (194200); Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Glycogen storage disease of heart, lethal congenital (261740); Cardiomyopathy, familial hypertrophic 6 (600858)