Arrhythmogenic right ventricular cardiomyopathy

Gene: PLN

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

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

• 23595706
• 23568436
• 24909667
• 25700660
• 30763825

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

• 22820313

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

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

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.

Red List (low evidence)

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.

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