This Panel is marked as Retired
Genetic Epilepsies with Febrile Seizures Plus (GEFS+)
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
1 review
Richard Scott (Genomics England Curator)
Comment when marking as ready: Insufficient dataCreated: 8 May 2016, 6:56 p.m.
Comment on list classification: Insufficient data for diagnostic in a monogenic settingCreated: 8 May 2016, 6:56 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Epilepsy, generalized, with febrile seizures plus, type 7
- Febrile seizures, familial, 3B
- Familial Febrile Seizures
- Generalized Epilepsy with Febrile Seizures Plus
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- Complete
- Panels with this gene
-
- Familial dysautonomia
- Vascular skin disorders
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Adult onset neurodegenerative disorder
- Brain channelopathy
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement 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).
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 Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Illumina TruGenome Clinical Sequencing Services
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SCN9A was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Radboud University Medical Center, Nijmegen