Genopathy
Gene-Disorder Association · Article
Gene
EPM2A-DT
EPM2A Divergent Transcript
Disorder
Progressive Myoclonus Epilepsy
First reported 1950
Supporting publications 12
Key publication · disorder [Pathogenesis of the degeneration of conduction systems in amaurotic idocy, and the problem of its relation to myoclonus epilepsy].Archiv fur Psychiatrie und Nervenkrankheiten, vereinigt mit Zeitschrift fur die gesamte Neurologie und Psychiatrie · 1950
Association Review

In brief

The association between EPM2A-DT (EPM2A Divergent Transcript) and Progressive Myoclonus Epilepsy is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 163
Symptoms 3
Compounds 0
Trials 0
Publications 12
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

1 source

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

Request access
03
EPM2A-DT

The gene

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

Request access
04
Progressive Myoclonus Epilepsy

The disorder

8 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

163 clinical variants

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

Request access
06
Literature

Reading

12 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access