Genopathy
Gene-Disorder Association · Article
Gene
SMARCB1
SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1
Disorder
Schwannomatosis 1
First reported 2007
Supporting publications 7
Key publication · gene–disorder Germline mutation of INI1/SMARCB1 in familial schwannomatosis.American journal of human genetics · 2007
Key publication · disorder Mass Spectrometric Study of NF2, NF3, N2F2, and N2F4.Journal of research of the National Bureau of Standards. Section A, Physics and chemistry · 1961
Manually curated
Association Review

In brief

The association between SMARCB1 (SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1) and Schwannomatosis 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 53
Symptoms 9
Compounds 0
Trials 0
Publications 7
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

3 sources

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

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03
SMARCB1

The gene

1 source summary

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

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04
Schwannomatosis 1

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

4 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

53 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

7 publications

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

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09
Provenance

References & sources

12 references

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

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