Genopathy
Gene-Disorder Association · Article
Gene
GOSR2
Golgi SNAP Receptor Complex Member 2
Disorder
Progressive Myoclonus Epilepsy
First reported 2011
Supporting publications 6
Key publication · gene–disorder A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.American journal of human genetics · 2011
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
Manually curated
Association Review

In brief

The association between GOSR2 (Golgi SNAP Receptor Complex Member 2) and Progressive Myoclonus Epilepsy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 281
Symptoms 3
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.

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02
Provenance

Evidence and sources

1 source

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

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03
GOSR2

The gene

1 source summary

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

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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).

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05
ClinVar and variant evidence

Genetic basis

281 clinical variants

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

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06
Literature

Reading

6 publications

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

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07
Provenance

References & sources

9 references

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

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