ClinGen Knowledge Base | Clinical Genome Resource

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 - arrhythmogenic right ventricular dysplasia 9 | MONDO:0012180

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	03/08/2017	View report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	05/31/2017	View report
Clinical Actionability	View report for scoring details	10/23/2017	View report

PKP2 - Brugada syndrome | MONDO:0015263

Curated by	Classification	Date	Report
Gene-Disease Validity	Disputed		View report

PKP2 - Brugada syndrome 1 | MONDO:0011001

Curated by	Classification	Date	Report
Gene-Disease Validity	Disputed		View report

PKP2

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	05/31/2017	View report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	05/31/2017	View report

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