Cardiomyopathy_Paediatric
Gene: PLN

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 30681346
- curated as a syndromic gene by ClinGen hypertrophic cardiomyopathy (HCM) working group

DEFINITIVE for cardiomyopathy by ClinGen working group:
- PLN best fit an intrinsic (primary) cardiomyopathy phenotype given there were no extracardiac features reported. PLN reached a definitive classification, with the phenotype spectrum including HCM, arrhythmo- genic right ventricular cardiomyopathy, and dilated cardiomyopathy.
Created: 29 Jul 2020, 5:28 a.m. | Last Modified: 29 Jul 2020, 5:28 a.m.

Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
cardiomyopathy

Publications

30681346

Created: 29 Jul 2020, 5:28 a.m.
Last Modified: 29 Jul 2020, 5:28 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.89

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
South West GLH
NHS GMS

Phenotypes

Cardiomyopathy, familial hypertrophic, 18,
Cardiomyopathy, dilated, 1P

OMIM

172405

Clinvar variants

Variants in PLN

Penetrance

None

Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLN was added gene: PLN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic, 18,; Cardiomyopathy, dilated, 1P

Cardiomyopathy_Paediatric Gene: PLN