Genopathy
Gene-Disorder Association · Article
Gene
KCTD7
Potassium Channel Tetramerization Domain Containing 7
Disorder
Progressive Myoclonus Epilepsy
First reported 1950
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
Association Review

In brief

The association between KCTD7 (Potassium Channel Tetramerization Domain Containing 7) and Progressive Myoclonus Epilepsy is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 4
Symptoms 3
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.

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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
KCTD7

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

4 clinical variants

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

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06
Provenance

References & sources

3 references

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

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