Gene Information

PKP2

plakophilin 2 [Source:HGNC Symbol;Acc:HGNC:9024]

protein_codingChromosome 12ENSG00000057294

Overview

PKP2 variants are associated with 5 diseases including familial isolated arrhythmogenic ventricular dysplasia, left dominant form and left ventricular noncompaction and 3 others, with 14 documented clinical phenotypes.

Associated Diseases

The PKP2 gene is associated with 5 medical conditions, including:

familial isolated arrhythmogenic ventricular dysplasia, left dominant form

MONDO:0017401

left ventricular noncompaction

MONDO:0018901

familial isolated arrhythmogenic ventricular dysplasia, right dominant form

MONDO:0017403

familial isolated arrhythmogenic ventricular dysplasia, biventricular form

MONDO:0017402

Brugada syndrome

MONDO:0015263

Clinical Phenotypes

Research has identified 14 phenotypic features associated with PKP2 variants:

Ventricular tachycardia

HP:0004756

Autosomal dominant inheritance

HP:0000006

Cardiac arrest

HP:0001695

Dilatation of the ventricular cavity

HP:0006698

Sudden cardiac death

HP:0001645

Syncope

HP:0001279

Premature ventricular contraction

HP:0006682

Dyspnea

HP:0002094

Epsilon wave

HP:0034304

Fibrofatty replacement of right ventricular myocardium

HP:0034364

Palpitations

HP:0001962

Right ventricular cardiomyopathy

HP:0011663

Prolonged QRS complex

HP:0006677

Young adult onset

HP:0011462

ClinVar Variants

ClinVar contains 10 variants associated with PKP2. Below are some notable variants:

NM_001005242.3(PKP2):c.938G>A (p.Ser313Asn)

Uncertain significance

VCV004528099