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Fetal anomalies

Gene: SCN3A

Amber List (moderate evidence)

SCN3A (sodium voltage-gated channel alpha subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000153253
EnsemblGeneIds (GRCh37): ENSG00000153253
OMIM: 182391, Gene2Phenotype
SCN3A is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Focal epilepsy
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
  • Focal epilepsy
Clinvar variants
Variants in SCN3A
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SCN3A was added gene: SCN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN3A were set to Focal epilepsy