Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
0.510 GeneticVariation disease BEFREE We present a case of a 21-month-old Mexican-mestizo female with intermittent 2:1 atrioventricular block and a corrected QT interval of 712 ms. Comprehensive open reading frame/splice mutational analysis of the 9 established LQTS-susceptibility genes proved negative, and complete mutational analysis of the 4 Na(vbeta)-subunits revealed a L179F (C535T) missense mutation in SCN4B that cosegregated properly throughout a 3-generation pedigree and was absent in 800 reference alleles. 17592081 2007
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
0.510 Biomarker disease CLINGEN After this discovery, SCN4B was analyzed in 262 genotype-negative LQTS patients (96% white), but no further mutations were found. 17592081 2007
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
0.510 Biomarker disease GENOMICS_ENGLAND After this discovery, SCN4B was analyzed in 262 genotype-negative LQTS patients (96% white), but no further mutations were found. 17592081 2007
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 Biomarker disease BEFREE LQT1 is a subtype of LQTS caused by mutations in KCNQ1, affecting the slow delayed-rectifier potassium current (<i>I</i><sub>Ks</sub>), which is essential for cardiac repolarization. 30967788 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE Loss-of-function (LOF) mutations in KCNQ1 are the most common cause of congenital long QT syndrome (LQTS), type 1 LQTS, an inherited genetic predisposition to cardiac arrhythmia and sudden cardiac death. 31518351 2019
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE Cardiac delayed rectifier potassium channel dysfunction due to the human ether‑à‑go‑go‑related gene (hERG) mutation causes congenital LQTS type 2. 30628647 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE To establish a KCNQ1 mutant-specific induced pluripotent stem cell (iPSC) model of a Chinese inherited long QT syndrome (LQTS) patient and to explore the pathogenesis of KCNQ1 mutations. 31226583 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE Several mutations linked to the LQTS have been identified, the most common of which have been found in the potassium channel KCNQ1 (LQT1) and hERG (LQT2) genes and in the sodium channel SCN5A (LQT3) gene. 27054604 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 Biomarker disease BEFREE Mutations that induce loss of function (LOF) or dysfunction of the human KCNQ1 channel are responsible for susceptibility to a life-threatening heart rhythm disorder, the congenital long QT syndrome (LQTS). 29532034 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE Several mutations linked to the LQTS have been identified, the most common of which have been found in the potassium channel KCNQ1 (LQT1) and hERG (LQT2) genes and in the sodium channel SCN5A (LQT3) gene. 27054604 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE During a routine genetic screening for KCNQ1, KCNH2 and SCN5A genes in index cases with LQTS, seven novel variants in KCNH2 and SCN5A genes were found. 30244407 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. 29791480 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 Biomarker disease BEFREE Allele distribution by protein topology in KCNQ1, KCNH2, and SCN5A was compared between gnomAD (n = 123,136) and a cohort of LQTS patients aggregated from eight published studies (n = 2,683). 28988457 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE We report three novel variants (KCNQ1 p.46, KCNH2 p.D803Y, SCN5A p.G1391R) which have never been reported for this AA location in LQTS; the phenotype-genotype correlation suggests their pathogenicity. 30244407 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE We identified a LQTS family harboring three compound mutations in different genes (KCNQ1-R174C, hERG-E1039X and SCN5A-E428K). 29449639 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 CausalMutation disease CLINVAR Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. 29532034 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE Two variants in the KCNH2 gene (p.D803Y and p.D46F) and one in the SCN5A gene (G1391R) were in amino acid (AA) position which up to present has not been reported in LQTS. 30244407 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 CausalMutation disease CLINVAR Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. 29431731 2018
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 CausalMutation disease CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases. 28438721 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 CausalMutation disease CLINVAR Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. 28944242 2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE Our results indicate that the novel KCNH2-C108Y variant can be a pathogenic LQTS mutation, whereas KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers. 28749435 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 Biomarker disease BEFREE This study describes one physiological form of KCNQ1, depolarized voltage sensors with a closed pore in the absence of PIP<sub>2</sub>, and reveals a regulatory interaction between CaM and KCNQ1 that may explain CaM-mediated LQTS. 28575668 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE Four patients had LQTS type 1, 6 had LQTS type 2, and 1 had a disease-associated mutation in KCNQ1 and a variant of unknown significance in KCNH2 gene. 28532774 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE We identified four genetic variants (KCNQ1-p.R583H, KCNH2-p.C108Y, KCNH2-p.K897T, and KCNE1-p.G38S) in an LQTS family. 28749435 2017