Genopathy
Gene-Disorder Association · Article
Gene
ESCO2
Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2
Disorder
Juberg-Hayward Syndrome
First reported 2020
Supporting publications 2
Key publication · gene–disorder Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.Archives of oral biology · 2020
Key publication · disorder A new familial syndrome of oral, cranial, and digital anomalies.The Journal of pediatrics · 1969
Manually curated
Association Review

In brief

The association between ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2) and Juberg-Hayward Syndrome is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 107
Symptoms 70
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
ESCO2

The gene

1 source summary

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

Request access
04
Juberg-Hayward Syndrome

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

35 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

107 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

2 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access