Hypertrophic cardiomyopathy
Gene: PRKAG2
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, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Cardiomyopathy, hypertrophic 6 (600858 )Created: 25 Mar 2019, 4:30 p.m.
HCM phenocopy - well established geneCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene on Royal Brompton diagnostic panel. Metablic storage disease, HCM phenocopy, also associated with WPW syndrome and conduction defectsCreated: 20 Mar 2019, 2:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial hypertrophic 6 (600858); Glycogen storage disease of heart, lethal congenital (261740); Wolff-Parkinson-White syndrome (194200)
Publications
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, imprinted status unknown
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
Comment when marking as ready: On Manchester diagnostic panelCreated: 11 Feb 2016, 3:10 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: PRKAG2 were set to 27532257; 28369730
Source South West GLH was added to PRKAG2. Mode of inheritance for gene PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to PRKAG2.
Source North West GLH was added to PRKAG2. Added phenotypes Wolff-Parkinson-White syndrome (194200); Cardiomyopathy, familial hypertrophic 6 (600858); Glycogen storage disease of heart, lethal congenital (261740) for gene: PRKAG2 Publications for gene PRKAG2 were changed from to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
PRKAG2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene PRKAG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRKAG2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene PRKAG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRKAG2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene PRKAG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRKAG2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
PRKAG2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services