This Panel is marked as Retired
Epilepsy Plus
Gene: SCN1A
SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert
- Literature
- UKGTN
- Eligibility statement exclusion criteria
- Eligibility statement prior genetic testing
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Epilepsy, generalized, with febrile seizures plus, type 2
- Febrile seizures, familial, 3A
- 604403
- Generalized Epilepsy With Febrile Seizures Plus, Type 2
- GEFSP2
- 607208
- Dravet syndrome
- OMIM
- 182389
- Clinvar variants
- Variants in SCN1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Familial cerebral small vessel disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Epilepsy Pluspanel. Source: Expert
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Epilepsy Pluspanel. Source: Literature
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Epilepsy Pluspanel. Source: UKGTN SCN1A was added to Epilepsy Pluspanel. Source: Eligibility statement prior genetic testing SCN1A was added to Epilepsy Pluspanel. Source: Eligibility statement exclusion criteria
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Epilepsy Pluspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SCN1A was created by ellenmcdonagh