Genopathy
Gene-Disorder Association · Article
Gene
GJB6
Gap Junction Protein Beta 6
Disorder
X-Linked Mixed Hearing Loss With Perilymphatic Gusher
First reported 1983
Key publication · disorder Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).International journal of pediatric otorhinolaryngology · 1983
Manually curated
Association Review

In brief

The association between GJB6 (Gap Junction Protein Beta 6) and X-Linked Mixed Hearing Loss With Perilymphatic Gusher is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 6
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

2 sources

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

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03
GJB6

The gene

2 source summaries

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

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04
X-Linked Mixed Hearing Loss With Perilymphatic Gusher

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

6 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

4 references

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

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