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  3. PRKAG2
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Cardiomyopathy_Paediatric

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)

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: Imported from Hypertrophic cardiomyopathy_HCM 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

Created: 29 Jul 2020, 5:37 a.m.
Last Modified: 29 Jul 2020, 5:37 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.89

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • London South GLHSouth West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic 6,
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • syndromic HCM
OMIM
602743
Clinvar variants
Variants in PRKAG2
Penetrance
None
Publications
  • 194200
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKAG2 was added gene: PRKAG2 was added to Cardiomyopathy_Paediatric. Sources: London South GLHSouth West GLH,NHS GMS,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200 Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM