Epileptic encephalopathy
Gene: SCN1BEnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 8 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1
Publications
- Wallace et al (2002) Neurology 58: 1426-1429
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
Epilepsy, generalized, with febrile seizures plus, type 1
Publications
- Wallace et al (2002) Neurology 58: 1426-1429
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
Epilepsy, generalized, with febrile seizures plus, type 1
Publications
- Wallace et al (2002) Neurology 58: 1426-1429
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
Epilepsy, generalized, with febrile seizures plus, type 1
Publications
- Wallace et al (2002) Neurology 58: 1426-1429
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, 11:52 a.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.Created: 21 Jan 2016, 11:51 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- Epilepsy, generalized, with febrile seizures plus, type 1
- OMIM
- 600235
- Clinvar variants
- Variants in SCN1B
- Penetrance
- Complete
- Publications
-
- Wallace et al (2002) Neurology 58: 1426-1429
- Panels with this gene
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 SCN1B were set to Epilepsy, generalized, with febrile seizures plus, type 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SCN1B were set to Wallace et al (2002) Neurology 58: 1426-1429
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SCN1B 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)SCN1B was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1B was added to Epileptic encephalopathypanel. Sources: Expert