Genopathy
Gene-Disorder Association · Article
Gene
BSCL2
BSCL2 Lipid Droplet Biogenesis Associated, Seipin
Disorder
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
First reported 1966
Supporting publications 9
Key publication · disorder Familial spastic paraplegia with amyotrophy of the hands.Annals of human genetics · 1966
Manually curated
Association Review

In brief

The association between BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) and Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 109
Symptoms 22
Compounds 0
Trials 0
Publications 9
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
BSCL2

The gene

1 source summary

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

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04
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13

The disorder

6 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

9 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

109 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

9 publications

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

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09
Provenance

References & sources

14 references

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

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