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Prepair 1000+

Gene: SCN1B

No list

SCN1B (sodium voltage-gated channel beta subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 8 panels

2 reviews

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

A severe autosomal recessive seizure disorder characterised by infantile onset of refractory seizures with resultant delayed global neurological development. Affected individuals have impaired intellectual development and may have other persistent neurological abnormalities, including axial hypotonia and spasticity; death in childhood may occur.
Definitive evidence for AR condition in Clingen.
Animal models, expression studies, and in vitro functional assays conducted.
Reported in at least 10 probands across 5 publications (PMID: 19710327, 23148524, 28218389, 31709768, 33901312).

Note: gene has also been implicated in autosomal dominant Generalized Epilepsy with Febrile Seizures (MIM# 604233) plus and autosomal dominant atrial fibrillation or Brugada syndrome (MIM# 612838 & 615377).
Created: 6 Mar 2025, 4:57 a.m. | Last Modified: 6 Mar 2025, 4:57 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 52 MIM#617350

Publications

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Bi-allelic variants cause EE/ID. Heterozygous variants linked to cardiac phenotypes and to GEFS+
Sources: Literature
Created: 24 Jul 2023, 7:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 52, MIM#617350

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Developmental and epileptic encephalopathy 52, MIM#617350
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2023, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: SCN1B was added gene: SCN1B was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: SCN1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN1B were set to 36291443; 31709768 Phenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy 52, MIM#617350 Review for gene: SCN1B was set to AMBER