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Arrhythmogenic Cardiomyopathy v0.58 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic Cardiomyopathy v0.57 PLN Zornitza Stark Publications for gene: PLN were set to 22820313
Arrhythmogenic Cardiomyopathy v0.48 PLN Ivan Macciocca edited their review of gene: PLN: Added comment: MODERATE evidence for ARVC, as reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308). Common Dutch founder mutation PLN Arg14del.; Changed publications: ARVC
Arrhythmogenic Cardiomyopathy v0.36 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy
Arrhythmogenic Cardiomyopathy v0.35 PLN Ivan Macciocca reviewed gene: PLN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, dilated cardiomyopathy; Mode of inheritance: None
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Marked gene: PLN as ready
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Tag founder tag was added to gene: PLN.
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Classified gene: PLN as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.13 PLN Zornitza Stark 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
Added comment: One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy.
Sources: Expert list