Genopathy
Gene-Disorder Association · Article
Gene
WBP2
WW Domain Binding Protein 2
Disorder
Deafness, Autosomal Recessive 107
First reported 1998
Key publication · disorder Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.American journal of medical genetics · 1998
Manually curated
Association Review

In brief

The association between WBP2 (WW Domain Binding Protein 2) and Deafness, Autosomal Recessive 107 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 5
Symptoms 2
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.

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
WBP2

The gene

1 source summary

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

Request access
04
Deafness, Autosomal Recessive 107

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

1 clinical feature

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

Request access
06
ClinVar and variant evidence

Genetic basis

5 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access