Genopathy
Gene-Disorder Association · Article
Gene
BSCL2
BSCL2 Lipid Droplet Biogenesis Associated, Seipin
Manually curated
Association Review

In brief

The association between BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) and Peripheral Nervous System Disease is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1
Symptoms 13
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.

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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
BSCL2

The gene

1 source summary

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

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04
Peripheral Nervous System Disease

The disorder

7 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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06
Provenance

References & sources

4 references

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

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