×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Clinical Spectrum of PRKAG2 Syndrome.
26729852
2016
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Transgenic knockdown of cardiac sodium/glucose cotransporter 1 (SGLT1) attenuates PRKAG2 cardiomyopathy, whereas transgenic overexpression of cardiac SGLT1 causes pathologic hypertrophy and dysfunction in mice.
25092788
2014
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Chronic AMPK activity dysregulation produces myocardial insulin resistance in the human Arg302Gln-PRKAG2 glycogen storage disease mouse model.
23829931
2013
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.
23778007
2013
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
SGLT1, a novel cardiac glucose transporter, mediates increased glucose uptake in PRKAG2 cardiomyopathy.
20600102
2010
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.
20031621
2009
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation.
20005292
2010
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.
19808419
2008
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.
19787389
2009
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
[Same genotype and different phenotypes in a family with PRKAG2 gene mutation].
17711718
2007
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.
17597581
2007
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
A familial form of conduction defect related to a mutation in the PRKAG2 gene.
17483151
2007
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Familial pseudo-Wolff-Parkinson-White syndrome.
16836667
2006
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.
16716659
2006
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
The authors describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy , severe conduction system abnormalities, and skeletal muscle glycogenosis.
16487706
2006
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
15877279
2005
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.
15611370
2005
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
14722619
2004
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
14722619
2004
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
14519435
2003
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Taken together, our data indicate that PRKAG2 mutations do not cause hypertrophic cardiomyopathy but rather lead to a novel myocardial metabolic storage disease, in which hypertrophy, ventricular pre-excitation and conduction system defects coexist.
11827995
2002
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
GeneticVariation
CLINVAR
Taken together, our data indicate that PRKAG2 mutations do not cause hypertrophic cardiomyopathy but rather lead to a novel myocardial metabolic storage disease, in which hypertrophy, ventricular pre-excitation and conduction system defects coexist.
11827995
2002
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
0.500
CausalMutation
CLINVAR
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
11407343
2001