DisGeNET - a database of gene-disease associations

Congenital long QT syndrome, C1141890

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs16847548

0.010

GeneticVariation

BEFREE

Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 in NOS1AP and KCNE1-D85N) did not reveal a correlation with symptoms or QTc intervals.

22708720

2013

dbSNP:

rs4657139

0.010

GeneticVariation

BEFREE

Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 in NOS1AP and KCNE1-D85N) did not reveal a correlation with symptoms or QTc intervals.

22708720

2013

dbSNP:

rs267607277

CALM1

0.010

GeneticVariation

BEFREE

We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P).

24917665

2014

dbSNP:

rs398124647

CALM2

0.010

GeneticVariation

BEFREE

We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P).

24917665

2014

dbSNP:

rs398124650

CALM2

0.010

GeneticVariation

BEFREE

We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P).

24917665

2014

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

KCNE1 mutations cause jervell and Lange-Nielsen syndrome.

9354783

1997

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

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

24606995

2014

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

16818210

2006

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

9354802

1997

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

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

26187847

2015

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

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

19716085

2009

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1.

11320260

2001

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.

12566567

2003

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.

19008479

2008

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.

24561134

2014

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Intracellular domains interactions and gated motions of I(KS) potassium channel subunits.

19521339

2009

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.

9445165

1998

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

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

15840476

2005

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.

24400172

2013

dbSNP:

rs74315445

KCNE1

0.700

GeneticVariation

CLINVAR

Functional interactions between KCNE1 C-terminus and the KCNQ1 channel.

19340287

2009

dbSNP:

rs1805127

KCNE1

0.010

GeneticVariation

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

dbSNP:

rs1805128

KCNE1

0.010

GeneticVariation

BEFREE

Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 in NOS1AP and KCNE1-D85N) did not reveal a correlation with symptoms or QTc intervals.

22708720

2013

dbSNP:

rs199473359

KCNE1

0.010

GeneticVariation

BEFREE

With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations).

16155735

2005

dbSNP:

rs199472910

KCNH2

0.700

GeneticVariation

CLINVAR

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

29766885

2016

dbSNP:

rs199472910

KCNH2

0.700

GeneticVariation

CLINVAR

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

12808265

2003