Early onset or syndromic epilepsy
Gene: SCN2A
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD EIEE11 & AD benign infantile familial seizures. Many reported cases and variants on HGMDPro.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile,613721; Seizures, benign familial infantile,607745
Publications
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 on list classification: Insufficient data for this phenotype (with inherited variants)Created: 8 May 2016, 7 p.m.
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.
Source Wessex and West Midlands GLH was added to SCN2A.
Source NHS GMS was added to SCN2A.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SCN2A. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to SCN2A. Panel: Genetic Epilepsy Syndromes
Phenotypes for SCN2A were set to Epileptic encephalopathy, early infantile, 11 613721; Seizures, benign familial infantile, 3 607745
Publications for SCN2A were set to 12243921; 15028761
SCN2A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
SCN2A was created by Sarah Leigh