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Variant Pathogenicity
PKP2
Name
PKP2
HGNC ID
HGNC:9024
Cytogenetic Location
12p11.21
Haploinsufficiency
Sufficient Evidence
Triplosensitivity
No Evidence
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External Genomic Resources
ClinVar Variants
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
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