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Molecular autopsy

Gene: SCN5A

Green List (high evidence)
SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Green List (high evidence)

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
Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); Long QT syndrome-3 (603830); Sick sinus syndrome 1 (608567); Ventricular fibrillation, familial, 1 (603829); {Sudden infant death syndrome, susceptibility to} (272120)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Ventricular fibrillation, familial, 1 (603829)
  • Brugada syndrome 1 (601144)
  • Dilated cardiomyopathy
  • Brugada syndrome 1 601144
  • Heart block, nonprogressive (113900)
  • Long QT syndrome
  • Heart block, progressive, type IA (113900)
  • {Sudden infant death syndrome, susceptibility to} (272120)
  • Ventricular fibrillation, familial, 1,
  • Brugada syndrome
  • Paroxysmal Familial Ventricular Fibrillation
  • Sick sinus syndrome 1 (608567)
  • Long QT syndrome-3 (603830)
  • Cardiomyopathy, dilated, 1E (601154)
  • Brugada syndrome 1
  • Ventricular fibrillation, familial, 1, 603829
  • Long QT syndrome-3
  • Cardiomyopathy, dilated, 1E
  • Atrial fibrillation, familial, 10 (614022)
OMIM
600163
Clinvar variants
Variants in SCN5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to SCN5A.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to SCN5A. Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A Publications for gene SCN5A were changed from 24317018; doi:10. 1007/ s12265-016-9673-5 to 27532257; 27761167; 20031634; 20186049; 16301704; 19716085; 30420954

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Ventricular fibrillation, familial, 1, 603829; Paroxysmal Familial Ventricular Fibrillation; Ventricular fibrillation, familial, 1, for gene: SCN5A

20 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1E; Long QT syndrome; Brugada syndrome; Dilated cardiomyopathy for gene: SCN5A Publications for gene SCN5A were changed from doi:10. 1007/ s12265-016-9673-5; 28391114; 7889574; 29697308; 22490985 to 24317018; doi:10. 1007/ s12265-016-9673-5

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SCN5A was added gene: SCN5A was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN5A were set to doi:10. 1007/ s12265-016-9673-5; 28391114; 7889574; 29697308; 22490985 Phenotypes for gene: SCN5A were set to Brugada syndrome 1 601144; Brugada syndrome 1; Long QT syndrome-3