Genopathy
Gene-Disorder Association · Article
Gene
GJB2
Gap Junction Protein Beta 2
Disorder
Bart-Pumphrey Syndrome
First reported 2004
Supporting publications 13
Key publication · gene–disorder Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.The Journal of investigative dermatology · 2004
Key publication · disorder [KERATOSIS PALMARIS ET PLANTARIS WITH CONGENITAL DEAFNESS AND TOTAL LEUKONYCHIA].Dermatologica · 1963
Manually curated
Association Review

In brief

The association between GJB2 (Gap Junction Protein Beta 2) and Bart-Pumphrey Syndrome is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 107
Symptoms 11
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

5 sources

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

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03
GJB2

The gene

2 source summaries

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

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04
Bart-Pumphrey Syndrome

The disorder

11 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

8 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

107 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
Literature

Reading

13 publications

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

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09
Provenance

References & sources

17 references

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

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