Genopathy
Gene-Disorder Association · Article
Gene
KCNJ10
Potassium Inwardly Rectifying Channel Subfamily J Member 10
Disorder
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
First reported 2009
Key publication · gene–disorder Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.American journal of human genetics · 2009
Key publication · disorder The large vestibular aqueduct syndrome.The Laryngoscope · 1978
Manually curated
Association Review

In brief

The association between KCNJ10 (Potassium Inwardly Rectifying Channel Subfamily J Member 10) and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 150
Symptoms 7
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

3 sources

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

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03
KCNJ10

The gene

2 source summaries

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

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04
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

The disorder

9 database identifiers

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

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05
Phenotype

Clinical features

4 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

150 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Provenance

References & sources

6 references

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

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