Genopathy
Gene-Disorder Association · Article
Gene
AFG3L2
AFG3 Like Matrix AAA Peptidase Subunit 2
Disorder
Optic Atrophy Plus Syndrome
First reported 2020
Supporting publications 1
Key publication · gene–disorder ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.Annals of neurology · 2020
Key publication · disorder Hereditary optic atrophy with dominant transmission; three Danish families.Acta ophthalmologica · 1950
Manually curated
Association Review

In brief

The association between AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) and Optic Atrophy Plus Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 12
Symptoms 38
Compounds 0
Trials 0
Publications 1
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
AFG3L2

The gene

1 source summary

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

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04
Optic Atrophy Plus Syndrome

The disorder

17 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

22 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

12 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

1 publication

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

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09
Provenance

References & sources

7 references

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

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