Genopathy
Gene-Disorder Association · Article
Gene
LOC130064709
ATAC-STARR-Seq Lymphoblastoid Active Region 14802
Disorder
Optic Atrophy 3, Autosomal Dominant
First reported 2001
Supporting publications 4
Key publication · gene–disorder Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.American journal of human genetics · 2001
Key publication · disorder [On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms].Revue neurologique · 1961
Manually curated
Association Review

In brief

The association between LOC130064709 (ATAC-STARR-Seq Lymphoblastoid Active Region 14802) and Optic Atrophy 3, Autosomal Dominant is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 42
Symptoms 44
Compounds 0
Trials 0
Publications 4
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

1 source

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

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03
LOC130064709

The gene

1 source summary

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

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04
Optic Atrophy 3, Autosomal Dominant

The disorder

13 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

42 clinical variants

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

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07
Literature

Reading

4 publications

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

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08
Provenance

References & sources

11 references

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

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