Arrhythmogenic right ventricular cardiomyopathy
Gene: PLN
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
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
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 panelCreated: 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
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
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.
Comment when marking as ready: GEL A&I decisionCreated: 15 Feb 2016, 1:12 p.m.
Comment on list classification: Definite cardiomyopathy geneCreated: 15 Feb 2016, 1:10 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, 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
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: PLN were set to 22820313; 28102477
Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Gene: pln has been classified as Green List (High Evidence).
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
Source London South GLH was added to PLN.
Tag founder-effect tag was added to gene: PLN.
Publications for gene: PLN were set to
Source Wessex and West Midlands GLH was added to PLN. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PLN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Expert list