Epileptic encephalopathy
Gene: SCN1AEnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
- Claes et al (2001) Am J Hum Genet 68: 1327_1332
- Escayg et al (2000) Nature Genet 24: 343-345
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
- Claes et al (2001) Am J Hum Genet 68: 1327_1332
- Escayg et al (2000) Nature Genet 24: 343-345
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
- Claes et al (2001) Am J Hum Genet 68: 1327_1332
- Escayg et al (2000) Nature Genet 24: 343-345
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
- Claes et al (2001) Am J Hum Genet 68: 1327 1332
- Escayg et al (2000) Nature Genet 24: 343-345
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.Created: 21 Jan 2016, 11:50 a.m.
Comment on mode of inheritance: Confirmed, and not on imprinted gene list.Created: 21 Jan 2016, 11:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Dravet syndrome
- Epilepsy, generalized, with febrile seizures plus, type 2
- Febrile seizures, familial, 3A
- OMIM
- 182389
- Clinvar variants
- Variants in SCN1A
- Penetrance
- Complete
- Publications
-
- Claes et al (2001) Am J Hum Genet 68: 1327_1332
- Escayg et al (2000) Nature Genet 24: 343-345
- Panels with this gene
-
- Paroxysmal central nervous system disorders
- Intellectual disability
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Brain channelopathy
- Familial cerebral small vessel disease
- Hereditary ataxia with onset in adulthood
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SCN1A were set to Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SCN1A were set to Claes et al (2001) Am J Hum Genet 68: 1327_1332; Escayg et al (2000) Nature Genet 24: 343-345
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert