Short QT syndrome
Gene: SCN5A
See figure 3 of Campuzano 2018, gene associated with Short QT syndrome. Only one patient with Short QT syndrome tested to date in Manchester.Created: 25 Sep 2019, 1:30 p.m. | Last Modified: 25 Sep 2019, 1:30 p.m.
Panel Version: 1.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Very limited evidenceCreated: 18 Sep 2019, 1:55 p.m. | Last Modified: 18 Sep 2019, 1:55 p.m.
Panel Version: 1.20
Various (not SQT)Created: 25 Mar 2019, 4:30 p.m.
Does not appear to be associated with SQT on OMIM and HGMDCreated: 25 Mar 2019, 4:27 p.m.
Comment on list classification: Although this gene has been given an Expert review Green, to date there is only one case reported with short QT, hence the "watchlist" tag has been added and an Amber rating has been assigned.Created: 19 Nov 2018, 12:09 p.m.
Evidence of causality is there, but isolated case. Arguably "amber" evidence.
Loss of function
Sources: LiteratureCreated: 17 Oct 2018, 9:13 p.m.
Mode of inheritance
Unknown
Phenotypes
short qt; Brugada; family history of sudden death
Publications
Source South West GLH was added to SCN5A.
Source North West GLH was added to SCN5A. Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A Publications for gene SCN5A were changed from 22490985; 29697308 to 16301704; 30420954; 22490985
Jules Hancox: Evidence of causality is there
Gene: scn5a has been classified as Amber List (Moderate Evidence).
Gene: scn5a has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: SCN5A.
Gene: scn5a has been classified as Amber List (Moderate Evidence).
Publications for gene: SCN5A were set to PMID: 22490985; 29697308
Phenotypes for gene: SCN5A were changed from short qt; Brugada; family history of sudden death to Brugada syndrome 1 601144
Source Emory Genetics Laboratory was added to SCN5A. Source Long QT syndrome (Version 1.5) was added to SCN5A. Source Expert Review Green was added to SCN5A. Source Brugada syndrome (Version 1.7) was added to SCN5A. Mode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Green List (high evidence)
gene: SCN5A was added gene: SCN5A was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: SCN5A was set to Unknown Publications for gene: SCN5A were set to PMID: 22490985; 29697308 Phenotypes for gene: SCN5A were set to short qt; Brugada; family history of sudden death Review for gene: SCN5A was set to GREEN