Genopathy
Gene-Disorder Association · Article
Gene
NHLRC1
NHL Repeat Containing E3 Ubiquitin Protein Ligase 1
Disorder
Myoclonic Epilepsy Of Lafora 2
First reported 2005
Supporting publications 8
Key publication · gene–disorder Lafora disease due to EPM2B mutations: a clinical and genetic study.Neurology · 2005
Key publication · disorder [Lafora's disease and movement disorders: report of 2 cases].Arquivos de neuro-psiquiatria · 2000
Manually curated
Association Review

In brief

The association between NHLRC1 (NHL Repeat Containing E3 Ubiquitin Protein Ligase 1) and Myoclonic Epilepsy Of Lafora 2 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 14
Symptoms 22
Compounds 0
Trials 0
Publications 8
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

4 sources

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

Request access
03
NHLRC1

The gene

1 source summary

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

Request access
04
Myoclonic Epilepsy Of Lafora 2

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

11 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

14 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

8 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access