Genopathy
Gene-Disorder Association · Article
Gene
NR2F1-AS1
NR2F1 Regulatory Antisense RNA 1
Disorder
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
First reported 2016
Supporting publications 7
Key publication · gene–disorder The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
Key publication · disorder Practice parameter: diagnostic assessment of the child with cerebral palsy [RETIRED]: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.Neurology · 2004
Manually curated
Association Review

In brief

The association between NR2F1-AS1 (NR2F1 Regulatory Antisense RNA 1) and Bosch-Boonstra-Schaaf Optic Atrophy Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 52
Symptoms 78
Compounds 0
Trials 0
Publications 7
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
NR2F1-AS1

The gene

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

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04
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

The disorder

10 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

51 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

52 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

7 publications

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

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08
Provenance

References & sources

12 references

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

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