Genopathy
Gene-Disorder Association · Article
Gene
AFG3L2
AFG3 Like Matrix AAA Peptidase Subunit 2
Disorder
Spastic Ataxia
First reported 1962
Key publication · disorder Hereditary spastic ataxia with central retinal degeneration and vestibular impairment. A clinical report on a family.Neurology · 1962
Association Review

In brief

The association between AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) and Spastic Ataxia is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 6
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
AFG3L2

The gene

1 source summary

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

Request access
04
Spastic Ataxia

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

Request access
06
Provenance

References & sources

3 references

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

Request access