Genopathy
Gene-Disorder Association · Article
Gene
CLN8
CLN8 Transmembrane ER And ERGIC Protein
Disorder
Myoclonic Epilepsy Of Lafora 1
First reported 1955
Key publication · disorder Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.Brain : a journal of neurology · 1955
Manually curated
Association Review

In brief

The association between CLN8 (CLN8 Transmembrane ER And ERGIC Protein) and Myoclonic Epilepsy Of Lafora 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 57
Compounds 0
Trials 0
Publications 0
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
CLN8

The gene

1 source summary

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

Request access
04
Myoclonic Epilepsy Of Lafora 1

The disorder

15 database identifiers

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

Request access
05
Phenotype

Clinical features

40 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Provenance

References & sources

7 references

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

Request access