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KCNQ1 and long QT syndrome are reported together in 9 articles.
Gene
KCNQ1
- HGNC
- HGNC:6294
24articles
24mentions
6variants with confirmed gene link
Most co-reported phenotypes (articles)
long QT syndrome 9arrhythmia 8diabetes mellitus 8hearing loss 4Ehlers-Danlos syndrome 1Turner syndrome 1congenital myopathy 1coronary artery disease 1
Reported variants (articles · ClinVar status)
Phenotype
Long QT syndrome
44articles
44mentions
10co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
9 records shown · first 60Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study.
PMID 31520628 | DOI 10.1016/j.ajog.2019.09.004 · American journal of obstetrics and gynecology · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “OBJECTIVE: This was a retrospective review of pregnancies in families with the 3 most common heterozygous pathogenic long QT syndrome genotypes in KCNQ1 (LQT1), KCNH2 (LQT2), or SCN5A (LQT3), which occur in approximately 1 in 2000 individuals.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNH2 | “OBJECTIVE: This was a retrospective review of pregnancies in families with the 3 most common heterozygous pathogenic long QT syndrome genotypes in KCNQ1 (LQT1), KCNH2 (LQT2), or SCN5A (LQT3), which occur in approximately 1 in 2000 individuals.” | 0.98 | hgnc_dict_v1 |
| gene | SCN5A | “OBJECTIVE: This was a retrospective review of pregnancies in families with the 3 most common heterozygous pathogenic long QT syndrome genotypes in KCNQ1 (LQT1), KCNH2 (LQT2), or SCN5A (LQT3), which occur in approximately 1 in 2000 individuals.” | 0.98 | hgnc_dict_v1 |
Determination and Interpretation of the QT Interval.
PMID 30571576 | DOI 10.1161/CIRCULATIONAHA.118.033943 · Circulation · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “METHODS: Patients with a confirmed pathogenic variant in KCNQ1(LQT1), KCNH2(LQT2), or SCN5A(LQT3) genes and their family members were included.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “BACKGROUND: Long QT syndrome (LQTS) is associated with potentially fatal arrhythmias.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNH2 | “METHODS: Patients with a confirmed pathogenic variant in KCNQ1(LQT1), KCNH2(LQT2), or SCN5A(LQT3) genes and their family members were included.” | 0.98 | hgnc_dict_v1 |
| gene | SCN5A | “METHODS: Patients with a confirmed pathogenic variant in KCNQ1(LQT1), KCNH2(LQT2), or SCN5A(LQT3) genes and their family members were included.” | 0.98 | hgnc_dict_v1 |
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
PMID 28944242 | PMCID PMC5606890 | DOI 10.1002/mgg3.305 · Molecular genetics & genomic medicine · 2017 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “BACKGROUND: One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the KCNQ1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | AR | “Occasionally, bi-allelic mutations in KCNQ1 are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1).” | 0.98 | hgnc_dict_v1 |
| phenotype | arrhythmia | “BACKGROUND: One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the KCNQ1 gene.” | 0.98 | phenotype_alias_lexicon_v2 |
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
PMID 28438721 | DOI 10.1016/j.hrthm.2017.04.028 · Heart rhythm · 2017 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNH2 | “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.” | 0.98 | hgnc_dict_v1 |
| gene | SCN5A | “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.” | 0.98 | hgnc_dict_v1 |
Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.
PMID 25737393 | PMCID PMC4770255 | DOI 10.1161/CIRCGENETICS.114.000785 · Circulation. Cardiovascular genetics · 2015 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “Analysis of patients versus general population controls uncovered enrichment of QTc-prolonging alleles in patients for 2 SNPs, located respectively at NOS1AP (rs12029454; odds ratio, 1.85; 95% confidence interval, 1.32-2.59; P=3×10(-4)) and KCNQ1 (rs12576239; odds ratio, 1.84; 95% confidence interval, 1.31-2.60; P=5×10(-4)).” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KCNH2 | “METHODS AND RESULTS: We searched for single-nucleotide polymorphisms (SNPs) that modulate the corrected QT (QTc)-interval and the occurrence of cardiac events in 639 patients harboring different mutations in KCNH2.” | 0.98 | hgnc_dict_v1 |
| gene | NOS1AP | “In an analysis for quantitative effects on the QTc-interval, 3 independent SNPs at NOS1AP (rs10494366, P=9.5×10(-8); rs12143842, P=4.8×10(-7); and rs2880058, P=8.6×10(-7)) were strongly associated with the QTc-interval with marked effects (>12 ms/allele).” | 0.98 | hgnc_dict_v1 |
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
PMID 24372464 | DOI 10.1111/cge.12330 · Clinical genetics · 2015 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “Pathogenic mutations in the KCNQ1 gene were detected in all JLNS patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Four of the six mutations were originally reported in autosomal dominant long QT syndrome (LQTS) patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | arrhythmia | “Eighty percent of the heterozygote mutation carriers showed prolongation of QTc, but majority of these reported no symptoms attributable to arrhythmias.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. We sought to explore the genotype-phenotype of Jervell and Lange-Nielsen syndrome (JLNS) patients in Saudi Arabia. We have also assessed the plausible effect of consanguinity into the pathology of JLNS. Mutations detected in this study will be advantageous in tribe and region-specific cascade screening of LQTS in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.
PMID 22708720 | DOI 10.1111/j.1399-0004.2012.01914.x · Clinical genetics · 2013 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNH2 | “Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases.” | 0.98 | hgnc_dict_v1 |
| gene | SCN5A | “Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases.” | 0.98 | hgnc_dict_v1 |
Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?
PMID 19184172 | DOI 10.1007/s00246-008-9377-y · Pediatric cardiology · 2009 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “LQT1, causing mutation c.387-5 T > A in the KCNQ1 gene, and LQT2, causing mutation c.3208 C > T in the KCNH2 gene, are presumably founder mutations in the Assir province of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNH2 | “LQT1, causing mutation c.387-5 T > A in the KCNQ1 gene, and LQT2, causing mutation c.3208 C > T in the KCNH2 gene, are presumably founder mutations in the Assir province of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | arrhythmia | “Congenital long QT syndrome (LQTS) is an inherited cardiac arrhythmia disorder characterized by prolongation of the QT interval; patients are predisposed to ventricular tachyarrhythmias and fibrillation leading to recurrent syncope or sudden cardiac death.” | 0.98 | phenotype_alias_lexicon_v2 |
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
PMID 19027783 | DOI 10.1016/j.pbiomolbio.2008.10.004 · Progress in biophysics and molecular biology · 2008 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “Both disorders could cause Long QT syndrome either without deafness (RWs), or with deafness (JLNs).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNE1 | “Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | arrhythmia | “Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes.” | 0.98 | phenotype_alias_lexicon_v2 |