Genopathy
Gene-Disorder Association · Article
Gene
ESCO2
Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2
Disorder
Roberts-Sc Phocomelia Syndrome
First reported 1979
Supporting publications 6
Key publication · gene–disorder Cytogenetic findings in Roberts-SC phocomelia syndrome(s).American journal of medical genetics · 1979
Key publication · disorder Haemoglobin SC disease.The Journal of the Faculty of Radiologists. Faculty of Radiologists (Great Britain) · 1958
Manually curated
Association Review

In brief

The association between ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2) and Roberts-Sc Phocomelia Syndrome is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 220
Symptoms 136
Compounds 0
Trials 0
Publications 6
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

5 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
Roberts-Sc Phocomelia Syndrome

The disorder

15 database identifiers

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

Request access
05
Phenotype

Clinical features

94 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

220 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

6 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access