Condition: Long QT Syndrome 1
rs746877365 in
DSP gene and
Long QT Syndrome 1
PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.
PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.
PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
PMID 25225338 2014 Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.
PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
PMID 30382575 2019 Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
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.
rs104894252 in
KCNQ1 gene and
Long QT Syndrome 1
PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?
PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.
PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.
PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome 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 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
PMID 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].
PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
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 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
PMID 23994779 2013 Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.
PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
PMID 14678125 2003 Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
PMID 12051962 2002 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen 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 11216980 2001 A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.
PMID 29033053 2018 Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
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 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
PMID 20850564 2011 Sixteen members from five other R231C-positive LQT1 families were genetically tested for 21 single nucleotide polymorphisms (SNPs) to determine if the FAF family had discriminatory SNPs associated with AF.
PMID 14998624 2004 Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
PMID 19843919 2009 Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
PMID 12205790 2002 [Congenital long QT syndrome in newborns].
PMID 22613981 2012 Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.
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.
rs147445322 in
KCNQ1-AS1;KCNQ1 gene and
Long QT Syndrome 1
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale 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 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 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?
PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.
PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.
PMID 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].
PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
rs199472819 in
KCNQ1;KCNQ1-AS1 gene and
Long QT Syndrome 1
PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?
PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.
PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.
PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
PMID 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].
PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
rs199472784 in
KCNQ1OT1;KCNQ1 gene and
Long QT Syndrome 1
PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?
PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with 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 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].
PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.
PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.