Genopathy
Gene-Disorder Association · Article
Gene
U2AF2
U2 Small Nuclear RNA Auxiliary Factor 2
Disorder
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
First reported 1990
Supporting publications 4
Key publication · disorder The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.American journal of medical genetics · 1990
Manually curated
Association Review

In brief

The association between U2AF2 (U2 Small Nuclear RNA Auxiliary Factor 2) and Developmental Delay, Dysmorphic Facies, And Brain Anomalies is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 4
Symptoms 54
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

3 sources

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

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03
U2AF2

The gene

1 source summary

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

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04
Developmental Delay, Dysmorphic Facies, And Brain Anomalies

The disorder

6 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

4 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

9 references

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

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