PKP2

Name: PKP2
HGNC ID: HGNC:9024
Cytogenetic Location: 12p11.21
Haploinsufficiency: Sufficient Evidence
Triplosensitivity: No Evidence

External Resources: View external resources
ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

PKP2 - dilated cardiomyopathy | MONDO:0005021

Curated by	Classification		Date	Report
Gene-Disease Validity	Disputed	Autosomal Dominant	10/09/2020	View report

PKP2 - arrhythmogenic right ventricular dysplasia 9 | MONDO:0012180

Curated by	Classification		Date	Report
Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency		08/22/2019	View report
Clinical Actionability	View report for scoring details		03/17/2020	View report

PKP2 - arrhythmogenic right ventricular cardiomyopathy | MONDO:0016587

Curated by	Classification		Date	Report
Gene-Disease Validity	Definitive	Autosomal Dominant	03/08/2018	View report
Clinical Actionability	View report for scoring details		03/17/2020	View report

PKP2 - Brugada syndrome 1 | MONDO:0011001

Curated by	Classification		Date	Report
Gene-Disease Validity	Disputed	Autosomal Dominant	11/21/2017	View report

PKP2

Curated by	Classification		Date	Report
Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency		08/22/2019	View report
	No Evidence for Triplosensitivity		08/22/2019	View report