Dilated and arrhythmogenic cardiomyopathy
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: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
On CGGl Royal Brompton DCM panel. Likely pathogenic variants reported specifically in DCM cases. Multiple reports in literature, esp. loss of function variants.Created: 19 Sep 2019, 10:24 p.m. | Last Modified: 19 Sep 2019, 10:24 p.m.
Panel Version: 0.44
Publications
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 {Sudden infant death syndrome, susceptibility to} OMIM#272120Created: 25 Mar 2019, 4:30 p.m.
HGMD: Variant in our family reported 12 times to HGMD, with LQT and Brugada as well as DCM. 22 variants assoc with DCM reported to HGMD - 11 ?DM rest DM. Many with multiple literature evidence. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quotes 2-3% of DCM cases have an SCN5A variant) and Pugh (2014) Genet Med 16, 601.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and 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: currently no stated association with DCM, 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
Cardiomyopathy, dilated, 1E
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, and has consistent Green reviews.Created: 24 Mar 2019, 10:27 a.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.
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:20 p.m.
Publications for gene: SCN5A were set to 20186049; 27532257
Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: scn5a has been classified as Green List (High Evidence).
gene: SCN5A was added gene: SCN5A was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN5A were set to 20186049; 27532257 Phenotypes for gene: SCN5A were set to Cardiomyopathy, dilated, 1E