Genopathy
Gene-Disorder Association · Article
Gene
SPG7
SPG7 Matrix AAA Peptidase Subunit, Paraplegin
Disorder
Spastic Paraplegia 7, Autosomal Recessive, With Or Without Cerebellar Ataxia
First reported 2004
Supporting publications 95
Key publication · gene–disorder A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.Brain : a journal of neurology · 2004
Key publication · disorder [Frequency of hereditary neurologic diseases. A clinical study].Minerva medica · 1993
Manually curated
Association Review

In brief

The association between SPG7 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin) and Spastic Paraplegia 7, Autosomal Recessive, With Or Without Cerebellar Ataxia is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 798
Symptoms 65
Compounds 0
Trials 0
Publications 95
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
SPG7

The gene

1 source summary

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

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04
Spastic Paraplegia 7, Autosomal Recessive, With Or Without Cerebellar Ataxia

The disorder

9 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

43 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

798 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

95 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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