Dilated Cardiomyopathy and conduction defects

Gene: SCN1B

Amber List (moderate evidence)

SCN1B (sodium voltage-gated channel beta subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 9 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Atrial fibrillation, familial, 13 OMIM#615377; Brugada syndrome 5 OMIM#612838; Cardiac conduction defect, nonspecific OMIM#612838; Epilepsy, generalized, with febrile seizures plus, type 1 OMIM#604233; Epileptic encephalopathy, early infantile, 52 OMIM#617350
Created: 25 Mar 2019, 4:30 p.m.
https://omim.org/entry/600235?search=scn1b&highlight=scn1bcn1b. Appears to be associated with conduction defects and AF. Not listed on HGMD with DCM.
Created: 25 Mar 2019, 4:27 p.m.
In arrhythmia panel only
Created: 25 Mar 2019, 4:24 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiac conduction defect, nonspecific
  • Nonspecific Cardiac Conduction Defect
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SCN1B. Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services