Genopathy
Gene-Disorder Association · Article
Gene
PRRT2
Proline Rich Transmembrane Protein 2
Disorder
Developmental And Epileptic Encephalopathy 94
First reported 1979
Key publication · disorder Implications of the new EEOC guidelines.Personnel · 1979
Manually curated
Association Review

In brief

The association between PRRT2 (Proline Rich Transmembrane Protein 2) and Developmental And Epileptic Encephalopathy 94 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 29
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
PRRT2

The gene

1 source summary

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

Request access
04
Developmental And Epileptic Encephalopathy 94

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

17 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

5 references

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

Request access