Arrhythmogenic cardiomyopathy

Gene: PLN

Green List (high evidence)

PLN (phospholamban)
EnsemblGeneIds (GRCh38): ENSG00000198523
EnsemblGeneIds (GRCh37): ENSG00000198523
OMIM: 172405, Gene2Phenotype
PLN is in 8 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: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45

James Eden (Manchester)

Green List (high evidence)

Not currently tested on Manchester ARVC panel. Literature associates Arg14del with ARVC, founder mutation of Dutch ancestry. Green for this variant. More clearly pathogenic variants in rest of gene are mainly associated with DCM.
Created: 27 Sep 2019, 9:29 a.m. | Last Modified: 27 Sep 2019, 9:29 a.m.
Panel Version: 1.36

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

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

Publications

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

Green List (high evidence)

On CGGL Royal Brompton ACM panel. Definitive HCM/DCM gene. Variants also reported to cause ARVC and DCM (dutch founder mutation). Rare cause of ARVC, but definitely associated so appropriate for this panel
Created: 18 Sep 2019, 10:22 p.m. | Last Modified: 18 Sep 2019, 10:22 p.m.
Panel Version: 1.36

Phenotypes
DCM; HCM

Publications

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

Rebecca Whittington (South West GLH)

I don't know

Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Created: 25 Mar 2019, 4:30 p.m.
DCM/HCM on OMIM - Not ARVC. HGMD - HCM/DCM. PubMED: 29567486 - core gene.
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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment when marking as ready: It was confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should remain Green.
Created: 4 Mar 2019, 9 p.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.

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Caroline Wright (Genomics England Curator)

Comment when marking as ready: GEL A&I decision
Created: 15 Feb 2016, 1:12 p.m.
Comment on list classification: Definite cardiomyopathy gene
Created: 15 Feb 2016, 1:10 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.
Created: 17 Jan 2019, 6:03 p.m.
PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.
Created: 17 Jan 2019, 5:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

  • Publications supporting role of Arg14del founder varaint in ARVC - PMID: 22820313
  • PMID: 28102477

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
founder-effect
OMIM
172405
Clinvar variants
Variants in PLN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PLN were set to 22820313; 28102477

12 Sep 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)

4 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).

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.

17 Jan 2019, Gel status: 4

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag founder-effect tag was added to gene: PLN.

17 Jan 2019, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: PLN were set to

17 Jan 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source Wessex and West Midlands GLH was added to PLN. Rating Changed from Green List (high evidence) to Green List (high evidence)

15 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).

15 Feb 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

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

15 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: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list