Genopathy
Gene-Disorder Association · Article
Gene
AFG3L2
AFG3 Like Matrix AAA Peptidase Subunit 2
Disorder
Optic Atrophy 12
First reported 2020
Supporting publications 5
Key publication · gene–disorder ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.Annals of neurology · 2020
Key publication · disorder Causes of blindness in children. 1046 cases registered with the Canadian National Institute for the Blind 1970-1973.Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 1975
Manually curated
Association Review

In brief

The association between AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) and Optic Atrophy 12 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 24
Symptoms 52
Compounds 0
Trials 0
Publications 5
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

4 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
Optic Atrophy 12

The disorder

7 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

40 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

24 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

5 publications

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

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09
Provenance

References & sources

11 references

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

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