Dilated Cardiomyopathy
Gene: PLNEnsemblGeneIds (GRCh38): ENSG00000198523
EnsemblGeneIds (GRCh37): ENSG00000198523
OMIM: 172405, Gene2Phenotype
PLN is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pln has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PLN were set to
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
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