Sudden cardiac death - previous panel

Gene: PRKAG2

Green List (high evidence)

PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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.

James Eden (Manchester)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • 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)
OMIM
602743
Clinvar variants
Variants in PRKAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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)