Dilated Cardiomyopathy

Gene: PLN

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen, variants in this gene are associated with both HCM and DCM, no apparent difference in molecular mechanism.
Created: 18 May 2021, 3:26 a.m. | Last Modified: 18 May 2021, 3:26 a.m.
Panel Version: 0.116

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1P, MIM# 609909

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1P, MIM# 609909
OMIM
172405
Clinvar variants
Variants in PLN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pln has been classified as Green List (High Evidence).

18 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909

18 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLN were set to

18 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLN was added gene: PLN was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLN was set to Unknown