Genopathy
Gene-Disorder Association · Article
Gene
KCNQ1
Potassium Voltage-Gated Channel Subfamily Q Member 1
Disorder
Long Qt Syndrome 1
First reported 1993
Supporting publications 239
Key publication · gene–disorder Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.Journal of medical genetics · 1993
Key publication · disorder [RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)].La Clinica pediatrica · 1963
Manually curated
Association Review

In brief

The association between KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1) and Long Qt Syndrome 1 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, a causative germline mutation, and a susceptibility locus.

Sources 5
Clinical variants 545
Symptoms 18
Compounds 0
Trials 0
Publications 239
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
KCNQ1

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Long Qt Syndrome 1

The disorder

14 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

16 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

545 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

239 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

17 references

Every source and publication cited across this dossier, as one numbered reference list.

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