Genopathy
Gene-Disorder Association · Article
Gene
SPG11
SPG11 Vesicle Trafficking Associated, Spatacsin
Manually curated
Association Review

In brief

The association between SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin) and Spastic Paraplegia 11 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 3,062
Symptoms 3
Compounds 0
Trials 0
Publications 115
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

1 source

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

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03
SPG11

The gene

1 source summary

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

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04
Spastic Paraplegia 11

The disorder

2 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

3,062 clinical variants

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

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06
Literature

Reading

115 publications

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

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07
Provenance

References & sources

11 references

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

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