Incidentalome
Gene: PRKAG2
Variants associated with cardiomyopathy, conduction disease, and ventricular pre-excitation. More than 50 unrelated individuals reported. Can present with isolated HCM.Created: 12 Aug 2022, 3:48 a.m. | Last Modified: 12 Aug 2022, 3:48 a.m.
Panel Version: 0.179
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740
Publications
Initially classified as DEFINITIVE for hypertrophic cardiomyopathy by ClinGen in 2017
In the 2019 publication, this has been revised to be DEFINITIVE for syndromic HCM (PRKAG2-cardiomyopathy), not isolated (PMID: 30681346)Created: 29 Jul 2020, 5:37 a.m. | Last Modified: 29 Jul 2020, 5:37 a.m.
Panel Version: 0.89
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PRKAG2-cardiomyopathy
Publications
Tag cardiac tag was added to gene: PRKAG2.
Gene: prkag2 has been classified as Green List (High Evidence).
Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740
Publications for gene: PRKAG2 were set to
Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: PRKAG2 was added gene: PRKAG2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRKAG2 was set to Unknown