Genopathy
Gene-Disorder Association · Article
Gene
EP300
EP300 Lysine Acetyltransferase
Disorder
Rubinstein-Taybi Syndrome 2
First reported 2005
Supporting publications 28
Key publication · gene–disorder Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.American journal of human genetics · 2005
Key publication · disorder Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.American journal of diseases of children (1960) · 1963
Manually curated
Association Review

In brief

The association between EP300 (EP300 Lysine Acetyltransferase) and Rubinstein-Taybi Syndrome 2 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 1,240
Symptoms 172
Compounds 0
Trials 0
Publications 28
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

4 sources

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

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03
EP300

The gene

2 source summaries

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

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04
Rubinstein-Taybi Syndrome 2

The disorder

8 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

144 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

1,240 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

28 publications

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

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09
Provenance

References & sources

16 references

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

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