Long QT syndromeGene: TRDN
Comment on list classification: This gene has been downgraded from Green to Amber at the request of NHS England following discussion at a Rare Disease workshop.
Created: 19 Aug 2020, 9:27 a.m. | Last Modified: 19 Aug 2020, 9:27 a.m.
Panel Version: 2.17
Comment on list classification: New gene added by Zornitza Stark. This gene has been given a Green status based on the evidence, which supports a gene-disease association.
Created: 12 Jun 2020, 1:26 p.m. | Last Modified: 12 Jun 2020, 1:26 p.m.
Panel Version: 2.8
Gene-disease association rated as DEFINITIVE by ClinGen:
Evidence for involvement of TRDN in LQTS was based mainly on a single publication demonstrating 5 cases with homozygous or compound heterozygous frameshift variants. All cases presented during early childhood (up to the age of 3 years) with QT prolongation, negative T waves in precordial leads, and exercise-induced arrhythmias, although typical
torsades de pointes was demonstrated only in 1 case. Experimental evidence demonstrated that TRDN loss of function may lead to arrhythmogenesis but did not specifically show prolongation of repolarization, which is the hallmark of LQTS. Accordingly, there was a debate
within the panel as to whether the TRDN-related cardiac phenotype should be classified as CPVT or as a unique syndrome, referred in the literature as triadin knockout syndrome. Because QT prolongation was the most easily discernable abnormality, it was decided to consider these cases as having an atypical LQTS phenotype. Furthermore, it was agreed that there was strong evidence for TRDN’s disease association.
Sources: Expert list
Created: 1 Jun 2020, 10:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome
Gene: trdn has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TRDN.
Gene: trdn has been classified as Green List (High Evidence).
gene: TRDN was added gene: TRDN was added to Long QT syndrome. Sources: Expert list Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRDN were set to 31983240; 25922419 Phenotypes for gene: TRDN were set to Long QT syndrome Review for gene: TRDN was set to GREEN