This Panel is marked as Retired
Familial Genetic Generalised Epilepsies
Gene: SCN9A
SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
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.
Richard Scott (Genomics England Curator)
Comment on list classification: Insufficient data to report diagnostically in a monogenic settingCreated: 8 May 2016, 7:01 p.m.
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
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Familial dysautonomia
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Early onset or syndromic epilepsy
- Pain syndromes
- Intellectual disability
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
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