Gene Symbol:
PKP2
HGNC:9024
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12p11.21
Filters:

ClinGen classifications

catecholaminergic polymorphic ventricular tachycardia
AD
01/20/2021
Evaluated
10/18/2023
Submitted
dilated cardiomyopathy
AD
10/09/2020
Evaluated
10/18/2023
Submitted
arrhythmogenic right ventricular cardiomyopathy
AD
03/08/2018
Evaluated
10/18/2023
Submitted

Genomics England PanelApp classifications

AD
03/02/2021
Evaluated
03/31/2021
Submitted

Invitae classifications

arrhythmogenic right ventricular dysplasia 9
Submitted as: OMIM:609040
AD
08/02/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

left ventricular noncompaction
Submitted as: Orphanet:54260
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

arrhythmogenic right ventricular dysplasia 9
AD
04/25/2022
Evaluated
09/11/2023
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.