Genopathy
Gene-Disorder Association · Article
Gene
PRRT2
Proline Rich Transmembrane Protein 2
Disorder
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
First reported 1985
Supporting publications 12
Key publication · disorder Cellular hypersensitivity to human pancreatic B-cell clone in diabetes mellitus and its relationship to the presence of islet cell antibodies.Endocrinologia japonica · 1985
Manually curated
Association Review

In brief

The association between PRRT2 (Proline Rich Transmembrane Protein 2) and Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 37
Symptoms 38
Compounds 0
Trials 0
Publications 12
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

4 sources

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

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03
PRRT2

The gene

1 source summary

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

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04
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis

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
Phenotype

Clinical features

8 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

37 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

12 publications

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

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09
Provenance

References & sources

15 references

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

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