Catecholaminergic polymorphic VT

Gene: TRDN

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: 18 Nov 2019, 2:58 p.m. | Last Modified: 18 Nov 2019, 2:58 p.m.

Panel Version: 1.25

Green List (high evidence)

Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (OMIM 615441)

Created: 25 Mar 2019, 4:30 p.m.

Literature evidence including functional / family testing. PMID:22422768. PMID: 25922419

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Only VUS (het) detected so far in our lab. good literature evidence for AR CPVT

Created: 19 Mar 2019, 5:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPVT 5

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 6 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with autosomal recessive CPVT5 (accessed 29/01/2019).

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441)

Publications

• 26200674

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

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.

Comment when marking as ready: Expert review green, and is on 3/4 of the original sources plus an additional published panel.

Created: 18 Jul 2016, 3:11 p.m.

Comment on mode of inheritance: Updated from monoallelic to biallelic due to expert review and information on OMIM.

Created: 18 Jul 2016, 3:10 p.m.

On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.

Created: 19 Feb 2016, 11:34 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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