Hypertrophic cardiomyopathy - teen and adult

Gene: PLN

Green List (high evidence)

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

6 reviews

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, hypertrophic, 18 (613874 )
Created: 25 Mar 2019, 4:30 p.m.
Rare HCM gene - strong evidence 28082330 for primary role. Only 3 missense variants on HGMD as LP does not appear to be segregation (27532257; 26573135). 2 regulatory variants - 16829191 with some functional work.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Phenotypic spectrum includes HCM, arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy (DCM). ClinGen knowledge base: definitive HCM association
Created: 20 Mar 2019, 2:02 p.m.

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

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 31 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 3 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 11 Feb 2016, 3:10 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 18,
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, hypertrophic, 18 (613874)
OMIM
172405
Clinvar variants
Variants in PLN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PLN were set to 27532257; 28369730

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to PLN. Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to PLN.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to PLN. Added phenotypes Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) for gene: PLN Publications for gene PLN were changed from to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PLN was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PLN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PLN was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PLN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PLN was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLN was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN