Genopathy
Gene-Disorder Association · Article
Gene
KCNE1
Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1
Disorder
Long Qt Syndrome
First reported 1997
Supporting publications 50
Key publication · gene–disorder Mutations in the hminK gene cause long QT syndrome and suppress IKs function.Nature genetics · 1997
Key publication · disorder Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death.American heart journal · 1957
Manually curated
Association Review

In brief

The association between KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1) and Long Qt Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 182
Symptoms 1
Compounds 0
Trials 0
Publications 50
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

2 sources

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

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03
KCNE1

The gene

2 source summaries

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

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04
Long Qt Syndrome

The disorder

7 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

182 clinical variants

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

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06
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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07
Literature

Reading

50 publications

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

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08
Provenance

References & sources

14 references

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

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