Genopathy
Gene-Disorder Association · Article
Gene
BCAP31
B Cell Receptor Associated Protein 31
Disorder
Deafness, Dystonia, And Cerebral Hypomyelination
First reported 1983
Supporting publications 1
Key publication · disorder [Encephalopathy related to X fragility: neither inactivation nor deletion of the distal fragment q28 to qter. Enzymatic and morphometric evidence].Journal de genetique humaine · 1983
Manually curated
Association Review

In brief

The association between BCAP31 (B Cell Receptor Associated Protein 31) and Deafness, Dystonia, And Cerebral Hypomyelination 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 a causative germline mutation.

Sources 4
Clinical variants 13
Symptoms 37
Compounds 0
Trials 0
Publications 1
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

4 sources

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

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03
BCAP31

The gene

1 source summary

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

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04
Deafness, Dystonia, And Cerebral Hypomyelination

The disorder

13 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

26 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

13 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

1 publication

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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