|
rs121908991
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs121908991
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
rs121908991
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.
|
15877279 |
2005 |
|
rs121908991
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
|
14519435 |
2003 |
|
rs28938173
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical Spectrum of PRKAG2 Syndrome.
|
26729852 |
2016 |
|
rs28938173
|
|
T |
0.700 |
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 |
|
rs121908987
|
|
T |
0.700 |
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 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Chronic AMPK activity dysregulation produces myocardial insulin resistance in the human Arg302Gln-PRKAG2 glycogen storage disease mouse model.
|
23829931 |
2013 |
|
rs28938173
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation.
|
20005292 |
2010 |
|
rs28938173
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
SGLT1, a novel cardiac glucose transporter, mediates increased glucose uptake in PRKAG2 cardiomyopathy.
|
20600102 |
2010 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.
|
20031621 |
2009 |
|
rs267606978
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.
|
19787389 |
2009 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.
|
19808419 |
2008 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A familial form of conduction defect related to a mutation in the PRKAG2 gene.
|
17483151 |
2007 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Same genotype and different phenotypes in a family with PRKAG2 gene mutation].
|
17711718 |
2007 |
|
rs28938173
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.
|
17597581 |
2007 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial pseudo-Wolff-Parkinson-White syndrome.
|
16836667 |
2006 |
|
rs267606978
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.
|
16716659 |
2006 |
|
rs28938173
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.
|
16487706 |
2006 |
|
rs121908987
|
|
T |
0.700 |
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 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
|
14722619 |
2004 |
|
rs28938173
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
|
14722619 |
2004 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations.
|
11827995 |
2002 |
|
rs28938173
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations.
|
11827995 |
2002 |
|
rs121908987
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
|
11407343 |
2001 |