Genopathy
Gene-Disorder Association · Article
Gene
ATP6V1B2
ATPase H+ Transporting V1 Subunit B2
Disorder
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
First reported 2017
Supporting publications 4
Key publication · gene–disorder Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.Clinical case reports · 2017
Key publication · disorder Congenital deafness associated with onychodystrophy.Archives of otolaryngology (Chicago, Ill. : 1960) · 1961
Manually curated
Association Review

In brief

The association between ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2) and Deafness, Congenital, With Onychodystrophy, Autosomal Dominant is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 2
Clinical variants 12
Symptoms 32
Compounds 0
Trials 0
Publications 4
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
ATP6V1B2

The gene

2 source summaries

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

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04
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant

The disorder

8 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

17 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

12 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

4 publications

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

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09
Provenance

References & sources

9 references

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

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