Short QT syndrome
Gene: CACNB2
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: 1.23
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, 1:19 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, 1:49 p.m. | Last Modified: 18 Sep 2019, 1:49 p.m.
Panel Version: 1.20
Variants in this GENE are reported as part of current diagnostic practice
Brugada syndrome 4 611876Created: 25 Mar 2019, 4:30 p.m.
1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
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 5 associated with Brugada syndrome 4.Created: 19 Nov 2018, 12:43 p.m.
Associated with Short QT phenotype in OMIM, but not in Gen2Phen. Listed on the Brugada syndrome panel (Version 1.7) and UKGTN. One variant reported in one case of Brugada syndrome 4 with a shortened QTc interval (PMID 17224476, 30027834, 29759541).Created: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Mutations are to an accessory subunit for L-type Ca channels. Mixed SQTS and Brugada phenotype.
Loss of function mutations.
Sources: LiteratureCreated: 17 Oct 2018, 8:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
short qt; brugada syndrome
Publications
Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source South West GLH was added to CACNB2. Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Source London South GLH was added to CACNB2.
Source North West GLH was added to CACNB2. Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2 Publications for gene CACNB2 were changed from 17224476; 30027834; 29759541 to 30420954; 19862833; 16301704
Jules Hancox: Mutations are to an accessory
Gene: cacnb2 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: CACNB2.
Gene: cacnb2 has been classified as Amber List (Moderate Evidence).
Gene: cacnb2 has been classified as Amber List (Moderate Evidence).
Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541
Source Brugada syndrome (Version 1.7) was added to CACNB2. Source Expert Review Green was added to CACNB2. Source UKGTN was added to CACNB2. Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Brugada syndrome 4 611876; Short QT syndrome 5 for gene: CACNB2 Rating Changed from No List (delete) to Green List (high evidence)
gene: CACNB2 was added gene: CACNB2 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541 Phenotypes for gene: CACNB2 were set to short qt; brugada syndrome Review for gene: CACNB2 was set to GREEN