Variant: rs121908987 

    present in Gene: PRKAG2
    present in Chromosome: 7
    Position on Chromosome: 151576412
    Alleles of this Variant: C/A;G;T

rs121908987 in PRKAG2 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) PMID 11407343 2001 Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

PMID 11371514 2001 Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 11827995 2002 Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

PMID 28917552 2018 CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 15611370 2005 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.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

rs121908987 in PRKAG2 gene and Glycogen Storage Disease of Heart, Lethal Congenital PMID 25997934 2015 Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.

PMID 23992123 2014 Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.

PMID 20031621 2009 Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

PMID 15611370 2005 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.

PMID 16836667 2006 Familial pseudo-Wolff-Parkinson-White syndrome.

rs121908987 in PRKAG2 gene and Hypertrophic Cardiomyopathy PMID 15611370 2005 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.

PMID 17483151 2007 A familial form of conduction defect related to a mutation in the PRKAG2 gene.

PMID 17711718 2007 [Same genotype and different phenotypes in a family with PRKAG2 gene mutation].

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

PMID 11407343 2001 Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

PMID 20031621 2009 Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.

PMID 11827995 2002 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.

PMID 16836667 2006 Familial pseudo-Wolff-Parkinson-White syndrome.

PMID 23778007 2013 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.

PMID 19808419 2008 Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.

PMID 23829931 2013 Chronic AMPK activity dysregulation produces myocardial insulin resistance in the human Arg302Gln-PRKAG2 glycogen storage disease mouse model.

rs121908987 in PRKAG2 gene and Wolff-Parkinson-White Syndrome PMID 11407343 2001 Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

PMID 11748095 2001 Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.