Early onset or syndromic epilepsy
Gene: SCN1A
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 Dravet syndrome, >80% of cases. Common cause of epilepsy (also assoc with AD generalised epilepsy with febrile seizures, AD febrile seizures and AD familial hemiplegic migraine).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
Epilepsy, generalized, with febrile seizures plus,604403; Epileptic encephalopathy, early infantile, (Dravet syndrome),607208; Febrile seizures, familial,604403; Migraine, familial hemiplegic,609634
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications
Variants in this GENE are reported as part of current diagnostic practice
Variable phenotype, which can include focal epilepsyCreated: 1 Feb 2016, 11:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
607208
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, 11:50 a.m.
Comment on mode of inheritance: Confirmed, and not on imprinted gene list.Created: 21 Jan 2016, 11:49 a.m.
Source Wessex and West Midlands GLH was added to SCN1A.
Source NHS GMS was added to SCN1A.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SCN1A. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to SCN1A. Panel: Genetic Epilepsy Syndromes
Publications for SCN1A were set to 11359211; 10742094
Phenotypes for SCN1A were set to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634
SCN1A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
SCN1A was created by Sarah Leigh