Brugada syndrome and cardiac sodium channel disease
Gene: SCN5A
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, 2:25 p.m. | Last Modified: 18 Nov 2019, 2:25 p.m.
Panel Version: 1.45
MOI was changed from Biallelic back to Monoallelic after discussion with Helen Brittain (Genomics England Clinical Team).Created: 27 Sep 2019, 1:47 p.m. | Last Modified: 27 Sep 2019, 1:47 p.m.
Panel Version: 1.45
Cardinal Gene for Brugada syndrome.Created: 18 Sep 2019, 1:57 p.m. | Last Modified: 18 Sep 2019, 1:57 p.m.
Panel Version: 1.42
Variants in this GENE are reported as part of current diagnostic practice
Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).Created: 25 Mar 2019, 4:30 p.m.
Lots of literature evidence including prevalence of variants in affected individuals. PMID:20129283. PMID:23805106. PMID:24573164. PMID:22739120Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene currently tested on Manchester cardiac gene panel. 914 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with Brugada syndrome, association with long QT syndrome 3 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene was given a validity classification of Definitive by the ClinGen validity curation group and is reflected by providing a Green review here.The gene-disease summary was downloaded on 20th Feb 2019. For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10165Created: 20 Feb 2019, 2:47 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 publications: Promoter variant reported in PMID: 28391114 in a 16-year-old female who died during sleep.Created: 14 Aug 2017, 1:47 p.m.
Mode of inheritance
Definitive
Phenotypes
Brugada syndrome; MONDO_0015263
Comment when marking as ready: On Manchester diagnostic panelCreated: 11 Feb 2016, 11:24 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCN5A were changed from Brugada syndrome 1, 601144; MONDO_0015263 to Brugada syndrome 1, 601144; Brugada syndrome 1, MONDO:0011001
Publications for gene: SCN5A were set to 20031634; 27761167
Mode of inheritance for gene: SCN5A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN5A were changed from Brugada syndrome 1 to Brugada syndrome 1, 601144; MONDO_0015263
Source South West GLH was added to SCN5A. Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Source London South GLH was added to SCN5A.
Source North West GLH was added to SCN5A. Added phenotypes Brugada syndrome 1 for gene: SCN5A Publications for gene SCN5A were changed from 28391114 to 20031634; 27761167 Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for SCN5A were set to 28391114
This gene has been classified as Green List (High Evidence).
SCN5A was added to Brugada syndromepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN5A was added to Brugada syndromepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN5A was added to Brugada syndromepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN5A was added to Brugada syndromepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN5A was added to Brugada syndromepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
SCN5A was added to Brugada syndromepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list