Epileptic encephalopathy
Gene: SCN2A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
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
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.
Mode of inheritance for SCN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SCN2A was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene SCN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene SCN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene SCN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
SCN2A was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert