Genopathy
Gene-Disorder Association · Article
Gene
KCNE1
Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1
Disorder
Long Qt Syndrome 5
First reported 1996
Supporting publications 21
Key publication · gene–disorder Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.Journal of molecular and cellular cardiology · 1996
Key publication · disorder Polymorphism of the gene encoding a human minimal potassium ion channel (minK).Gene · 1994
Manually curated
Association Review

In brief

The association between KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1) and Long Qt Syndrome 5 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 272
Symptoms 7
Compounds 0
Trials 0
Publications 21
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
KCNE1

The gene

2 source summaries

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

Request access
04
Long Qt Syndrome 5

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

6 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

272 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

21 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access