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  3. PLN
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Arrhythmogenic Cardiomyopathy

Gene: PLN

Amber List (moderate evidence)
PLN (phospholamban)
EnsemblGeneIds (GRCh38): ENSG00000198523
EnsemblGeneIds (GRCh37): ENSG00000198523
OMIM: 172405, Gene2Phenotype
PLN is in 8 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

MODERATE 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

  • ARVC

Created: 7 Aug 2020, 3:59 a.m.
Last Modified: 7 Aug 2020, 3:59 a.m.
Panel version: 0.48

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy.
Sources: Expert list
Created: 2 Aug 2020, 7:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular cardiomyopathy

Publications

Created: 2 Aug 2020, 7:37 a.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
founder
OMIM
172405
Clinvar variants
Variants in PLN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy

27 May 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLN were set to 22820313

7 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy

2 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pln has been classified as Amber List (Moderate Evidence).

2 Aug 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: PLN.

2 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pln has been classified as Amber List (Moderate Evidence).

2 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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