Short QT syndromeGene: SCN10A
Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 85 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Episodic pain syndrome, familial, 2 (615551)
Variants in this GENE are reported as part of current diagnostic practice
This is a very recent report. The evidence that the index patient had short QT is high. Causality is inferred rather than demonstrated functionally through cellular electrophysiology.
There is growing evidence for role of SCN10A in heart
Despite the rating, I would recommend including this on the gene panel as the SQTS is rare and has a low success rate with targeted genotyping. It is possible that the association with SCN10A is stronger and so inclusion would be prudent
Created: 17 Oct 2018, 9:26 p.m.
Mode of inheritance
sudden death; J wave syndrome; short QT
Source North West GLH was added to SCN10A. Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A Publications for gene SCN10A were changed from 30177317; 29016797 to 30420954; 19862833; 16301704
Jules Hancox: This is a very recent report.
Publications for gene: SCN10A were set to PMID:30177317
Source Brugada syndrome (Version 1.7) was added to SCN10A. Source Expert Review Red was added to SCN10A. Mode of inheritance for gene SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Red List (low evidence)
gene: SCN10A was added gene: SCN10A was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: SCN10A was set to Unknown Publications for gene: SCN10A were set to PMID:30177317 Phenotypes for gene: SCN10A were set to sudden death; J wave syndrome; short QT Review for gene: SCN10A was set to RED