Gene: KCNH2

Alternate names for this Gene: ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1

Gene Summary: This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified.

Gene is located in Chromosome: 7

Location in Chromosome : 7q36.1

Description of this Gene: potassium voltage-gated channel subfamily H member 2

Type of Gene: protein-coding

rs7789146 in KCNH2 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs56282717 in KCNH2 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs1805123 in KCNH2 gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12720441 in KCNH2 gene and Brugada Syndrome (disorder) PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 11997281 2002 Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

rs199472910 in KCNH2 gene and Congenital long QT syndrome PMID 12808265 2003 Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG.

PMID 27816319 2017 Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

PMID 29766885 2016 Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.

PMID 24057343 2014 Congenital long QT syndrome with compound mutations in the KCNH2 gene.

PMID 19843919 2009 Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 23303164 2013 An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.

PMID 16432067 2006 Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

PMID 18441445 2008 Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

PMID 29431731 2018 Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 11009462 2000 Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.

PMID 19490267 2009 Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

PMID 10862094 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

PMID 10483966 1999 Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

PMID 11741928 2002 The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations.

PMID 16831322 2006 [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

PMID 11278781 2001 Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2.

PMID 25158096 2015 The enigmatic cytoplasmic regions of KCNH channels.

PMID 12270925 2002 Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene.

PMID 23158531 2012 Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

PMID 19695459 2009 D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

PMID 11854117 2002 Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 21440677 2011 Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.

rs199472921 in KCNH2 gene and Dysmorphic features PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

PMID 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 18835466 2008 Long QT Syndrome.

PMID 24400717 2014 Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

PMID 27761161 2016 Molecular pathogenesis of long QT syndrome type 2.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 12925462 2003 Short QT Syndrome: a familial cause of sudden death.

PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

rs1057517742 in KCNH2 gene and Long QT Syndrome PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 19862833 2009 The genetic basis of long QT and short QT syndromes: a mutation update.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 23303164 2013 An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.

PMID 9694858 1998 HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.

PMID 11278781 2001 Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 17088455 2006 Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.

PMID 8700910 1996 Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia.

PMID 7889573 1995 A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 14998624 2004 Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

PMID 10086971 1999 C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

PMID 10996323 2000 Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.

PMID 16432067 2006 Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

PMID 19926013 2009 Genotype-phenotype aspects of type 2 long QT syndrome.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

PMID 20850565 2010 Trigger-specific risk factors and response to therapy in long QT syndrome type 2.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 11854117 2002 Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

PMID 15475579 2005 We studied wild-type and/or type 2 long-QT syndrome-associated mutant (R56Q) HERG current (I(HERG)) in HEK-293 cells, at both 23 and 36 degrees C. Conventional voltage-clamp analysis revealed mutation-induced changes in channel kinetics.

PMID 25809256 2015 Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways.

PMID 10187793 1999 In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R).

PMID 21536673 2011 Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

PMID 25923442 2015 Eag Domains Regulate LQT Mutant hERG Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

PMID 25008322 2014 Concerted all-or-none subunit interactions mediate slow deactivation of human ether-à-go-go-related gene K+ channels.

PMID 20876384 2011 Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.

PMID 18752142 2008 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

PMID 19038855 2009 Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.

PMID 9600240 1998 Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.

PMID 21308345 2011 Investigation of ion channel gene variants in patients with long QT syndrome.

PMID 18441445 2008 Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

PMID 10690305 1999 Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2.

PMID 11668638 2001 Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.

PMID 21244686 2011 We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A>G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).

PMID 10841244 2000 A novel missense mutation (L552S) in the HERG channel, present in the homozygous state in the affected siblings and in the heterozygous state in their parents, as well as in 38 additional subjects from six LQTS families, was identified.

PMID 25417810 2014 Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

PMID 11222472 2001 Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.

PMID 16265869 2005 [The long QT syndrome from the bedside to molecular genetic laboratory. The history of the first described Hungarian family].

PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 10862094 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

PMID 10226095 1999 Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.

PMID 9452080 1998 Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 12775586 2003 Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG.

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

PMID 18808722 2008 Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 9721698 1998 Novel mechanism of HERG current suppression in LQT2: shift in voltage dependence of HERG inactivation.

PMID 9544837 1998 Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

PMID 10560244 1999 Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 21295269 2011 An electrifying iPSC disease model: long QT syndrome type 2 and heart cells in a dish.

PMID 21960720 2011 Induced pluripotent stem cell-derived cardiomyocytes and long QT syndrome: is personalized medicine ready for prime time?

PMID 9927399 1999 Low penetrance in the long-QT syndrome: clinical impact.

PMID 19843919 2009 Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

PMID 19070294 2008 Identification of the gene causing long QT syndrome in an Israeli family.

PMID 21367833 2011 Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation.

PMID 21703926 2011 Pluripotent stem cell models of cardiac disease and their implication for drug discovery and development.

PMID 21185501 2011 Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 19057127 2008 Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation.

PMID 15090700 2004 Long-term follow-up of notched T waves in female patients with LQT2 (HERG) mutations.

PMID 19996378 2010 Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan.

PMID 21240260 2011 Modelling the long QT syndrome with induced pluripotent stem cells.

PMID 11468227 2001 Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.

PMID 26496715 2016 Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction.

PMID 22573844 2012 Structure-guided topographic mapping and mutagenesis to elucidate binding sites for the human ether-a-go-go-related gene 1 potassium channel (KCNH2) activator NS1643.

PMID 26063740 2015 Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.

PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

PMID 30041777 2018 Wearable cardioverter defibrillators for patients with long QT syndrome.

PMID 28449774 2017 Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

PMID 21216356 2011 Genetic testing of patients with long QT syndrome.

PMID 23022675 2013 RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties.

PMID 21109023 2011 Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome.

PMID 12062363 2002 Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

PMID 12808265 2003 Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG.

PMID 11009462 2000 Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.

PMID 29431731 2018 Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

PMID 12621127 2003 Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

PMID 10187793 1999 In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R).

PMID 25294783 2014 Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).

PMID 22396785 2012 Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

PMID 20960620 2008 Gene symbol: KCNH2. Disease: Long QT syndrome.

PMID 21440677 2011 Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.

PMID 19490267 2009 Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

PMID 12407082 2002 Structural and functional role of the extracellular s5-p linker in the HERG potassium channel.

PMID 23174487 2013 Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations.

PMID 28087566 2017 Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

PMID 14661677 2003 Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 10187793 1999 In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R).

PMID 22821100 2012 Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S).

PMID 18386051 2008 The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 23158531 2012 Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

PMID 22402334 2012 Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases.

PMID 17171344 2007 A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death.

PMID 12566525 2003 The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

PMID 14720170 2004 A 21-year-old woman with long QT syndrome and missense mutation in HERG (T613M), suffered from repeated attacks of pause dependent torsade de pointes, even though she was given beta-blockers and underwent stellate ganglion block twice at the age of eight.

PMID 19731233 2009 Long QT syndrome was identified postnatally on the electrocardiogram, and was confirmed by genetic testing which showed a mutation in the KCNH2 gene (p.T613M).

PMID 11524404 2001 Long-QT syndrome-associated missense mutations in the pore helix of the HERG potassium channel.

PMID 11741928 2002 The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations.

PMID 19695459 2009 D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

PMID 16831322 2006 [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

PMID 18808722 2008 Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2.

PMID 11170080 2001 We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome.

PMID 20975234 2010 Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.

PMID 16818214 2006 Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 20851114 2011 Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.

PMID 28049825 2017 Tbx20 controls the expression of the KCNH2 gene and of hERG channels.

PMID 22515331 2012 KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.

PMID 19324319 2009 Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.

PMID 14714110 2004 These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype.

PMID 22617876 2012 Complexities of 5'splice site definition: implications in clinical analyses.

PMID 15364333 2004 An intronic mutation causes long QT syndrome.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 21419236 2011 Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.

PMID 20181576 2010 A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.

PMID 21063070 2010 Cardiac ion channel gene mutations in Greek long QT syndrome patients.

PMID 12877697 2003 Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

PMID 27803431 2016 M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells.

PMID 15176425 2004 Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

rs199472897 in KCNH2 gene and Long QT Syndrome 1 PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 27920829 2016 Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

rs121912504 in KCNH2 gene and Long Qt Syndrome 2 PMID 12062363 2002 Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

PMID 11170080 2001 Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 16361248 2006 Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

PMID 8635257 1996 Missense mutation in the pore region of HERG causes familial long QT syndrome.

PMID 10753933 2000 The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

PMID 10517660 1999 Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 12621127 2003 Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

PMID 10187793 1999 Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

PMID 10735633 2000 Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 9452080 1998 Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 8914737 1996 Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

PMID 7889573 1995 A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 9544837 1998 Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

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

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

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 10862094 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

PMID 27041096 2016 Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?

PMID 27816319 2017 Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

PMID 24057343 2014 Congenital long QT syndrome with compound mutations in the KCNH2 gene.

PMID 19843919 2009 Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 19160088 2009 High prevalence of four long QT syndrome founder mutations in the Finnish population.

PMID 10841244 2000 Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns.

PMID 10483966 1999 Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

PMID 15176425 2004 Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

PMID 18441445 2008 Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

PMID 18752142 2008 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 19070294 2008 Identification of the gene causing long QT syndrome in an Israeli family.

PMID 10560244 1999 Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred.

PMID 27041150 2016 KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 22429796 2012 End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.

PMID 19490267 2009 Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

PMID 22052944 2012 Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture.

PMID 16754261 2006 Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.

PMID 26063740 2015 Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.

PMID 24015048 2013 Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.

PMID 17060380 2006 Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

rs4725984 in KCNH2 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs199472921 in KCNH2 gene and Multiple congenital anomalies PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

PMID 18835466 2008 Long QT Syndrome.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 12925462 2003 Short QT Syndrome: a familial cause of sudden death.

PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 24400717 2014 Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

PMID 27761161 2016 Molecular pathogenesis of long QT syndrome type 2.

rs773724817 in KCNH2 gene and Overgrowth PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 18835466 2008 Long QT Syndrome.

PMID 24400717 2014 Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

PMID 27761161 2016 Molecular pathogenesis of long QT syndrome type 2.

PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

PMID 11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

PMID 12925462 2003 Short QT Syndrome: a familial cause of sudden death.

rs12668582 in KCNH2 gene and QT interval feature (observable entity) PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 29213071 2017 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

PMID 20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.

rs4725984 in KCNH2 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs104894021 in KCNH2 gene and Short QT Syndrome 1 PMID 14676148 2004 Sudden death associated with short-QT syndrome linked to mutations in HERG.

PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 10483966 1999 Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

PMID 19490267 2009 Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 10862094 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.