Genopathy
Gene-Disorder Association · Article
Gene
KCNQ1OT1
KCNQ1 Opposite Strand/Antisense Transcript 1
Disorder
Long Qt Syndrome
First reported 1997
Supporting publications 13
Key publication · gene–disorder Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.Circulation · 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 KCNQ1OT1 (KCNQ1 Opposite Strand/Antisense Transcript 1) and Long Qt Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 88
Symptoms 1
Compounds 0
Trials 0
Publications 13
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

1 source

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

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03
KCNQ1OT1

The gene

1 source summary

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

88 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

13 publications

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

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07
Provenance

References & sources

11 references

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

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