This Panel is marked as Retired
Epilepsy Plus
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Familial Febrile Seizures
- 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 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Epilepsy Pluspanel. Source: Expert
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Epilepsy Pluspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SCN9A was created by ellenmcdonagh