Short QT syndrome
Gene: CACNA2D1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 18 Nov 2019, 2:45 p.m. | Last Modified: 18 Nov 2019, 2:45 p.m.
Panel Version: 1.23
Comment on mode of inheritance: MOI was corrected.Created: 30 Sep 2019, 12:24 p.m. | Last Modified: 30 Sep 2019, 12:24 p.m.
Panel Version: 1.22
See table 1/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, 1:15 p.m. | Last Modified: 25 Sep 2019, 1:31 p.m.
Panel Version: 1.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
On CGGL Royal Brompton Panel currently, but no variants yet detected. Agree with limited evidence detailed in other reviews. more evidence neededCreated: 18 Sep 2019, 1:48 p.m. | Last Modified: 18 Sep 2019, 1:48 p.m.
Panel Version: 1.20
Variants in this GENE are reported as part of current diagnostic practice
No associated phenotype on OMIMCreated: 25 Mar 2019, 4:30 p.m.
1 variant associated with SQT on HGMD. Also reported in controls 22840528. Some functional characterisation 29016797Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Comment when marking as ready: Confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should remain Amber.Created: 4 Mar 2019, 9:15 p.m.
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 on list classification: Taking into consideration the Expert review green, this gene is rated amber rather than red, awaiting further reports of Short QT syndrome 6.Created: 19 Nov 2018, 12:54 p.m.
Not associated with Short QT phenotype in OMIM or in Gen2Phen, however, at least one variant has been reported in Short QT syndrome 6 (no others reported in the literature so far November 2018), together with supportive in vitro functional evidence (PMID: 21383000).Created: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Responsible for SQT6 variant of the SQTS.
Variable expressivity/penetrance
Functional evidence for loss of function
Sources: LiteratureCreated: 17 Oct 2018, 9:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
short qt; aborted sudden death; Brugada syndrome
Publications
Mode of inheritance for gene: CACNA2D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to CACNA2D1. Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Source London South GLH was added to CACNA2D1.
Source North West GLH was added to CACNA2D1. Publications for gene CACNA2D1 were changed from 21383000; 29759541; 29697308 to 30420954; 19862833; 16301704
Jules Hancox: Responsible for SQT6 variant o
Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: CACNA2D1.
Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Gene: cacna2d1 has been classified as Red List (Low Evidence).
Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308
Source Brugada syndrome (Version 1.7) was added to CACNA2D1. Source Expert Review Green was added to CACNA2D1. Source UKGTN was added to CACNA2D1. Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Short QT syndrome 6 for gene: CACNA2D1 Rating Changed from No List (delete) to Green List (high evidence)
gene: CACNA2D1 was added gene: CACNA2D1 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308 Phenotypes for gene: CACNA2D1 were set to short qt; aborted sudden death; Brugada syndrome Review for gene: CACNA2D1 was set to GREEN