Genopathy
Gene-Disorder Association · Article
Gene
EP300-AS1
EP300 Antisense RNA 1
Disorder
Chromosome 16p13.3 Deletion Syndrome, Proximal
First reported 1966
Key publication · disorder Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome.American journal of diseases of children (1960) · 1966
Association Review

In brief

The association between EP300-AS1 (EP300 Antisense RNA 1) and Chromosome 16p13.3 Deletion Syndrome, Proximal is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 83
Compounds 0
Trials 0
Publications 0
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
EP300-AS1

The gene

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

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04
Chromosome 16p13.3 Deletion Syndrome, Proximal

The disorder

14 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

82 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

1 clinical variant

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

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07
Provenance

References & sources

5 references

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

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