Hypertrophic cardiomyopathy_HCM
Gene: PRKAG2

PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Can present in adulthood with isolated HCM.
Created: 29 Jul 2020, 6:58 a.m. | Last Modified: 29 Jul 2020, 6:58 a.m.

Panel Version: 0.138

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, hypertrophic 6, MIM# 600858

Created: 29 Jul 2020, 6:58 a.m.
Last Modified: 29 Jul 2020, 6:58 a.m.
Panel version: 0.138

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

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

30681346

Created: 29 Jul 2020, 5:37 a.m.
Last Modified: 29 Jul 2020, 5:37 a.m.
Panel version: 0.89

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, hypertrophic 6, MIM# 600858

OMIM

602743

Clinvar variants

Variants in PRKAG2

Penetrance

None

Publications

30681346

Panels with this gene