Familial Genetic Generalised Epilepsies
Gene: SCN1AEnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
1 review
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
604403
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Epilepsy, generalized, with febrile seizures plus, type 2
- Febrile seizures, familial, 3A
- 604403
- OMIM
- 182389
- Clinvar variants
- Variants in SCN1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Arthrogryposis
- Intellectual disability
- Brain channelopathy
- Fetal anomalies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SCN1A were set to Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A;604403
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SCN1A were set to 10742094
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)SCN1A was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen