Glycogen Storage Diseases
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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. More than 50 unrelated individuals reported.
Created: 6 Mar 2021, 6:58 a.m. | Last Modified: 6 Mar 2021, 6:58 a.m.

Panel Version: 0.63

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glycogen storage disease of heart, lethal congenital, MIM# 261740

Publications

Created: 6 Mar 2021, 6:58 a.m.
Last Modified: 6 Mar 2021, 6:58 a.m.
Panel version: 0.63

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glycogen storage disease of heart, lethal congenital, MIM# 261740

OMIM

602743

Clinvar variants

Variants in PRKAG2

Penetrance

None

Publications

Panels with this gene