Genopathy
Gene-Disorder Association · Article
Gene
SGCE
Sarcoglycan Epsilon
Disorder
Dystonia 11, Myoclonic
First reported 2002
Supporting publications 47
Key publication · gene–disorder Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.Annals of neurology · 2002
Key publication · disorder Nocturnal myoclonus.Journal of neurology, neurosurgery, and psychiatry · 1953
Manually curated
Association Review

In brief

The association between SGCE (Sarcoglycan Epsilon) and Dystonia 11, Myoclonic is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 578
Symptoms 28
Compounds 0
Trials 0
Publications 47
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
SGCE

The gene

1 source summary

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

Request access
04
Dystonia 11, Myoclonic

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

22 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

578 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

47 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access