Incidentalome

Gene: SCN1B

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

All families reported to carry the C121W mutation which seems to be a common mutation in SCN1B that leads to epilepsy. Found in the European Non-Finnish population – PopMax AF 0.00305% (gnomAD).

PMID: 9697698 – Large multi-generational tasmanian family, C121W heterozygous variant was identified. An in vitro functional study on the voltage-gated Na+ channels in the single immunoglobulin-like fold motifs that showed that the high conserved cysteine residues disrupt the disulfide bridge formation.

PMID: 17020904 – Multiple unrelated families reported to carry the highly conserved cysteine residue mutation.
PMID: 12011299 – 4 individuals from an unrelated Australian family present with the same C121W heterozygous mutation.
Created: 31 Mar 2023, 4:13 a.m. | Last Modified: 31 Mar 2023, 4:13 a.m.
Panel Version: 0.229

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Generalized epilepsy with febrile seizures plus, type 1 (MONDO:0018214; MIM 604233)

Publications

Details

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN1B was added gene: SCN1B was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN1B was set to Unknown