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Dilated and arrhythmogenic cardiomyopathy

Gene: PLN

Green List (high evidence)
PLN (phospholamban)
EnsemblGeneIds (GRCh38): ENSG00000198523
EnsemblGeneIds (GRCh37): ENSG00000198523
OMIM: 172405, Gene2Phenotype
PLN is in 7 panels

8 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Created: 3 Dec 2019, 2:28 p.m.
Last Modified: 3 Dec 2019, 2:28 p.m.
Panel version: 0.52

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

Green List (high evidence)

On CGGL Royal Brompton DCM panel, pathogenic variants reported in diagnostic testing. Definitive DCM gene, multiple literature reports
Created: 19 Sep 2019, 10:09 p.m. | Last Modified: 19 Sep 2019, 10:09 p.m.
Panel Version: 0.44

Phenotypes
OMIM: 609909 Cardiomyopathy, dilated, 1P

Publications

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

Created: 19 Sep 2019, 10:09 p.m.
Last Modified: 19 Sep 2019, 10:09 p.m.
Panel version: 0.44

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, dilated, 1P OMIM#609909; Cardiomyopathy, hypertrophic, 18 OMIM#613874
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 9 variants assoc with DCM but note appears to overlap of some variants with HCM, 2 x ?DM. All but one variant have multiple literature associated which is quite recent such as Walsh 2017 and Alfares 2015. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601. - Note not many variants in these three studies.
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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: Imported from Dilated Cardiomyopathy and conduction defects panel version 1.55

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.
Created: 24 Mar 2019, 10:29 a.m.
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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 1.46

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: currently no stated association with DCM, 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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 1.44

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Arrhythmogenic cardiomyopathy panel version 0

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 14 Feb 2016, 4:20 p.m.
Created: 14 Feb 2016, 4:20 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 0.5

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Created: 6 Jan 2016, 5:12 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, dilated, 1P
  • Cardiomyopathy, hypertrophic, 18 (613874)
OMIM
172405
Clinvar variants
Variants in PLN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Mar 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PLN was added gene: PLN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLN were set to 20186049; 27532257 Phenotypes for gene: PLN were set to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18 (613874)