Genopathy
Gene-Disorder Association · Article
Gene
SPG21
SPG21 Abhydrolase Domain Containing, Maspardin
Manually curated
Association Review

In brief

The association between SPG21 (SPG21 Abhydrolase Domain Containing, Maspardin) and Hereditary Spastic Paraplegia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 20
Symptoms 3
Compounds 0
Trials 0
Publications 2
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
SPG21

The gene

1 source summary

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

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04
Hereditary Spastic Paraplegia

The disorder

10 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

20 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

2 publications

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

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07
Provenance

References & sources

7 references

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

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