Condition: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
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).