Genopathy
Gene-Disorder Association · Article
Gene
KCNH2
Potassium Voltage-Gated Channel Subfamily H Member 2
Disorder
Long Qt Syndrome
First reported 1995
Supporting publications 328
Key publication · gene–disorder A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel.Cell · 1995
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 KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2) and Long Qt Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 2,596
Symptoms 1
Compounds 0
Trials 0
Publications 328
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
KCNH2

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

2,596 clinical variants

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

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06
Literature

Reading

328 publications

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

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07
Provenance

References & sources

13 references

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

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