1. Panels
  2. Familial Genetic Generalised Epilepsies
  3. SCN9A
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Familial Genetic Generalised Epilepsies

Gene: SCN9A

Red List (low evidence)
SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Added the watchlist tag.
Created: 8 Dec 2016, 10:29 a.m.
Created: 8 Dec 2016, 10:29 a.m.

Panel version: 1.12

Richard Scott (Genomics England Curator)

Comment on list classification: Insufficient data to report diagnostically in a monogenic setting
Created: 8 May 2016, 7:01 p.m.
Created: 8 May 2016, 7:01 p.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Febrile Seizures
Tags
watchlist
OMIM
603415
Clinvar variants
Variants in SCN9A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

SCN9A was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SCN9A was added to Familial generalised epilepsypanel. Sources: Illumina TruGenome Clinical Sequencing Services