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  3. PLN
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Hypertrophic cardiomyopathy_HCM

Gene: PLN

Green List (high evidence)
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

Created: 29 Jul 2020, 5:28 a.m.
Last Modified: 29 Jul 2020, 5:28 a.m.
Panel version: 0.89

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 18 (MIM #613874)
OMIM
172405
Clinvar variants
Variants in PLN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

29 Jul 2020, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: PLN were changed from to Cardiomyopathy, hypertrophic, 18 (MIM #613874)

29 Jul 2020, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: PLN were set to

29 Jul 2020, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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