Incidentalome

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 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic 6, MIM# 600858
  • Glycogen storage disease of heart, lethal congenital, MIM# 261740
Tags
cardiac
OMIM
602743
Clinvar variants
Variants in PRKAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: PRKAG2.

12 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkag2 has been classified as Green List (High Evidence).

12 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740

12 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKAG2 were set to

12 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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