Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among the deleted genes, two genes have cardiac implications: PRKAG2 (OMIM #602743), associated with hypertrophic cardiomyopathy, cardiac conduction disease, and sudden death, and KCNH2 (OMIM #152427), coding for a cardiac potassium channel involved in long QT syndrome, unmasked by the chlorpheniramine treatment.
|
31347270 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial Wolff-Parkinson-White (WPW) syndrome.
|
28917552 |
2018 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block.
|
28431061 |
2017 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Clinical Spectrum of PRKAG2 Syndrome.
|
26729852 |
2016 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.
|
28009297 |
2016 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic cardiomyopathy.
|
26496977 |
2015 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Mutations in γ2 subunit (PRKAG2) have been associated with a cardiac syndrome including inherited ventricular preexcitation, conduction disorder and hypertrophy mimicking hypertrophic cardiomyopathy.
|
23741347 |
2013 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Chronic AMPK activity dysregulation produces myocardial insulin resistance in the human Arg302Gln-PRKAG2 glycogen storage disease mouse model.
|
23829931 |
2013 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in γ2 subunit (PRKAG2) have been associated with a cardiac syndrome including inherited ventricular preexcitation, conduction disorder and hypertrophy mimicking hypertrophic cardiomyopathy.
|
23741347 |
2013 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Extensive fibrofatty replacement of the myocardium has been previously thought to be pathognomonic of ARVC; however, this report details two other forms of inherited cardiomyopathy, namely hypertrophic cardiomyopathy (HCM) and the PRKAG2 cardiac syndrome, that were found to have significant fibrofatty myocardial replacement at pathologic examination.
|
19632136 |
2011 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation.
|
20005292 |
2010 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
SGLT1, a novel cardiac glucose transporter, mediates increased glucose uptake in PRKAG2 cardiomyopathy.
|
20600102 |
2010 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation.
|
20005292 |
2010 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.
|
19787389 |
2009 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PRKAG2 have been described in patients with familial WPW syndrome and hypertrophic cardiomyopathy.
|
18812404 |
2009 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.
|
19787389 |
2009 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.
|
20031621 |
2009 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.
|
19808419 |
2008 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We developed a custom DNA resequencing array that contains both strands of all coding exons (160), splice-site junctions, and 5'UTR regions of 12 genes that have been clearly implicated in HCM (MYH7, MYBPC3, TNNT2, TPM1, TNNI3, MYL3, MYL2, CSRP3, PLN, ACTC, TNNC1, and PRKAG2).
|
18409188 |
2008 |