Epilepsy Plus
Gene: SCN1BEnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 8 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Generalized Epilepsy with Febrile Seizures Plus
- Epilepsy, generalized, with febrile seizures plus, type 1
- Epilepsy, generalized, with febrile seizures plus, type 1
- 604233
- OMIM
- 600235
- Clinvar variants
- Variants in SCN1B
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1B was added to Epilepsy Pluspanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)SCN1B was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SCN1B was added to Epilepsy Pluspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green