ClinGen Gene Validity Curations

Gene: SCN4B

Red List (low evidence)

SCN4B (sodium voltage-gated channel beta subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000177098
EnsemblGeneIds (GRCh37): ENSG00000177098
OMIM: 608256, Gene2Phenotype
SCN4B is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Long QT Syndrome
  • OrphaNet ORPHA768
  • OMIM 611819
OMIM
608256
Clinvar variants
Variants in SCN4B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN4B was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Red

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN4B was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SCN4B was created by ellenmcdonagh