Genopathy
Gene-Disorder Association · Article
Gene
LRRC37A2
Leucine Rich Repeat Containing 37 Member A2
Disorder
Myoclonic Epilepsy Of Unverricht And Lundborg
First reported 1951
Supporting publications 6
Key publication · disorder Familial degeneration of the cerebral gray matter in childhood with convulsions, myoclonus, spasticity, cerebellar ataxia, choreoathetosis, dementia, and death in status epilepticus; differentiation of infantile and juvenile types.The Journal of pediatrics · 1951
Manually curated
Association Review

In brief

The association between LRRC37A2 (Leucine Rich Repeat Containing 37 Member A2) and Myoclonic Epilepsy Of Unverricht And Lundborg 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 28
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
LRRC37A2

The gene

1 source summary

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

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04
Myoclonic Epilepsy Of Unverricht And Lundborg

The disorder

14 database identifiers

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

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05
Phenotype

Clinical features

16 clinical features

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

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06
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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07
Literature

Reading

6 publications

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

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08
Provenance

References & sources

13 references

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

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