Genopathy
Gene-Disorder Association · Article
Gene
AFG3L2
AFG3 Like Matrix AAA Peptidase Subunit 2
Disorder
Spastic Ataxia 5, Autosomal Recessive
First reported 2011
Supporting publications 11
Key publication · gene–disorder Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.PLoS genetics · 2011
Key publication · disorder Autosomal recessive spastic ataxia of Charlevoix-Saguenay.The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques · 1978
Manually curated
Association Review

In brief

The association between AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) and Spastic Ataxia 5, Autosomal Recessive 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 31
Symptoms 36
Compounds 0
Trials 0
Publications 11
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
AFG3L2

The gene

1 source summary

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

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04
Spastic Ataxia 5, Autosomal Recessive

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

21 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

31 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

11 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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