Dilated Cardiomyopathy and conduction defects
Gene: SCN5AComment on mode of inheritance: MOI was corrected.Created: 30 Sep 2019, 11:51 a.m. | Last Modified: 30 Sep 2019, 11:51 a.m.
Panel Version: 1.61
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
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.
Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to SCN5A.
Source North West GLH was added to SCN5A. Added phenotypes Cardiomyopathy, dilated, 1E for gene: SCN5A Publications for gene SCN5A were changed from 28391114 to 27532257; 20186049 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).
Model of inheritance for gene SCN5A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN5A was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: 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 Dilated Cardiomyopathy and conduction defectspanel. Sources: 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 Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
SCN5A was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list