Catecholaminergic Polymorphic Ventricular Tachycardia

Gene: TRDN

Green List (high evidence)

Definitive for CPVT by ClinGen expert panel as of 20-Jan-2021.

Created: 11 Oct 2021, 5:06 a.m. | Last Modified: 11 Oct 2021, 5:06 a.m.

Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Triadin knockout syndrome; CPVT; atypical LQTS phenotype

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

Green List (high evidence)

As at 03/06/2020, not assessed by ClinGen for association with CPVT; listed as “strong” for association with LQTS, and is associated with CPVT5 in OMIM. Green on GEL PanelApp

Pathogenic variants in TRDN cause what is being called “triadin knockout syndrome” or TKOS. This is a very rare condition wuth features similar to both LQTS and CPVT. A registry study has reported 16 different families with either homozygous or compound heterozygous null pathogenic variants.A small number of patients alos had skeletal muscle phenotypes. Onset is typically in childhood, but milder phenotypes may emerge with expanded testing.. Given the overlap of clinical features with CPVT, this gene should be sequenced for the indication of CPVT.

Created: 3 Jun 2020, 10:27 a.m. | Last Modified: 3 Jun 2020, 10:27 a.m.

Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
triadin knockout syndrome; LQTS; CPVT

Publications

• PMID: 30649896
• 25922419
• 22422768