Short QT syndrome
Gene: CACNA1C
Note association with Brugada is DISPUTED (ClinGen), can't really find evidence for association with Short QT syndrome.Created: 3 Jul 2020, 10:47 a.m. | Last Modified: 3 Jul 2020, 10:47 a.m.
Panel Version: 2.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 3 Mar 2022, 1:04 p.m. | Last Modified: 3 Mar 2022, 1:04 p.m.
Panel Version: 2.12
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 18 Nov 2019, 2:42 p.m. | Last Modified: 18 Nov 2019, 2:42 p.m.
Panel Version: 1.23
Timothy syndrome (601005); Brugada syndrome 3 (611875)Created: 25 Mar 2019, 4:30 p.m.
Not associated with SQTCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Gene currently tested by alternative panel, very few short QT referrals to date. 74 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no association with Short QT syndrome, disputed association with Brugada syndrome 1 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brugada syndrome 3 (611875); Timothy syndrome (601005)
Publications
Variants in this GENE are reported as part of current diagnostic practice
No cases reported in the literature. No cases on ClinVar.Created: 25 Jan 2019, 12:52 p.m.
Comment on publications: removed inclusion of PMIDCreated: 19 Nov 2018, 12:13 p.m.
Associated with Brugada syndrome 3 611875 phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in 3 unrelated cases of Brugada syndrome 3 611875 with shortened QT, together with supporting functional studies (PMID 30279520).Created: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype
Sources: LiteratureCreated: 17 Oct 2018, 8:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
short qt; brugada syndrome; syncope; scd
Publications
Phenotypes for gene: CACNA1C were changed from Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; Short QT; CACNA1C-related disorder
Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 611875; syncope; brugada syndrome; scd; Brugada syndrome 3 (611875); short qt; Timothy syndrome (601005) to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Tag for-review was removed from gene: CACNA1C.
Tag for-review tag was added to gene: CACNA1C.
Source West Midlands, Oxford and Wessex GLH was added to CACNA1C.
Publications for gene: CACNA1C were set to 24291113; 16301704
Source South West GLH was added to CACNA1C.
Source London South GLH was added to CACNA1C.
Source North West GLH was added to CACNA1C. Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C Publications for gene CACNA1C were changed from 17224476; 28427417; 28490369; 29759541; 29697308 to 24291113; 16301704
Jules Hancox: Encodes alpha subunit of L-typ
Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308
Source Emory Genetics Laboratory was added to CACNA1C. Source Long QT syndrome (Version 1.5) was added to CACNA1C. Source Expert Review Green was added to CACNA1C. Source UKGTN was added to CACNA1C. Source Brugada syndrome (Version 1.7) was added to CACNA1C. Added phenotypes Brugada syndrome 3 611875 for gene: CACNA1C Rating Changed from No List (delete) to Green List (high evidence)
gene: CACNA1C was added gene: CACNA1C was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308 Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd Review for gene: CACNA1C was set to GREEN