Epileptic encephalopathy
Gene: SCN2AEnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 7 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
- Kamiya et al (2004) J of Neuro 24(11): 2690 _2698
- Heron et al (2002) Lancet 360: 851_852
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
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
- Kamiya et al (2004) J of Neuro 24(11): 2690 _2698
- Heron et al (2002) Lancet 360: 851_852
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
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
- Kamiya et al (2004) J of Neuro 24(11): 2690 _2698
- Heron et al (2002) Lancet 360: 851_852
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
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
- Kamiya et al (2004) J of Neuro 24(11): 2690 2698
- Heron et al (2002) Lancet 360: 851 852
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, 11:54 a.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.Created: 21 Jan 2016, 11:53 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Early Infantile Epileptic Encephalopathy, Autosomal Dominant
- Seizures, benign familial infantile, 3
- Epileptic encephalopathy, early infantile, 11
- BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
- OMIM
- 182390
- Clinvar variants
- Variants in SCN2A
- Penetrance
- Complete
- Publications
-
- Kamiya et al (2004) J of Neuro 24(11): 2690 _2698
- Heron et al (2002) Lancet 360: 851_852.
- 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 SCN2A were set to Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3; Epileptic encephalopathy, early infantile, 11; BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SCN2A were set to Kamiya et al (2004) J of Neuro 24(11): 2690 _2698; Heron et al (2002) Lancet 360: 851_852.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SCN2A 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)SCN2A 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 SCN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert