Genopathy
Gene-Disorder Association · Article
Gene
KCNC1
Potassium Voltage-Gated Channel Subfamily C Member 1
Disorder
Kcnc1-Related Disorders
First reported 2014
Key publication · disorder A framework for the interpretation of de novo mutation in human disease.Nature genetics · 2014
Association Review

In brief

The association between KCNC1 (Potassium Voltage-Gated Channel Subfamily C Member 1) and Kcnc1-Related Disorders is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 16
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
KCNC1

The gene

2 source summaries

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

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04
Kcnc1-Related Disorders

The disorder

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

16 clinical variants

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

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06
Provenance

References & sources

3 references

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

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