Genopathy
Gene-Disorder Association · Article
Gene
CSTB
Cystatin B
Disorder
Unverricht-Lundborg Syndrome
First reported 1997
Supporting publications 25
Key publication · gene–disorder Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.Nature genetics · 1997
Key publication · disorder [Familial myoclonia (Unverricht-Lundborg syndrome)].Revista espanola de pediatria · 1951
Manually curated
Association Review

In brief

The association between CSTB (Cystatin B) and Unverricht-Lundborg Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 39
Symptoms 2
Compounds 0
Trials 0
Publications 25
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

2 sources

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

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03
CSTB

The gene

1 source summary

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

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04
Unverricht-Lundborg Syndrome

The disorder

7 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

39 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

25 publications

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

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07
Provenance

References & sources

12 references

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

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