Arrhythmogenic Cardiomyopathy
Gene: PLNMODERATE evidence for ARVC, as reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308). Common Dutch founder mutation PLN Arg14del.Created: 27 May 2021, 5:35 a.m. | Last Modified: 27 May 2021, 5:35 a.m.
Panel Version: 0.48
ClinGen rated at definitive for "PLN-asscoaited cardiomyopathy". Most commonly implicated in arrhythmogenic and dilated cardiomyopathies with a small number of case reports in hypertrophic cardiomyopathy.Created: 7 Aug 2020, 3:59 a.m. | Last Modified: 7 Aug 2020, 3:59 a.m.
Panel Version: 0.35
Phenotypes
hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy; dilated cardiomyopathy
Publications
One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy.
Sources: Expert listCreated: 2 Aug 2020, 7:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular cardiomyopathy
Publications
Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy
Publications for gene: PLN were set to 22820313
Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy
Gene: pln has been classified as Amber List (Moderate Evidence).
Tag founder tag was added to gene: PLN.
Gene: pln has been classified as Amber List (Moderate Evidence).
gene: PLN was added gene: PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLN were set to 22820313 Phenotypes for gene: PLN were set to Arrhythmogenic right ventricular cardiomyopathy Review for gene: PLN was set to AMBER