Epileptic encephalopathy
Gene: SCN1A
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
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for SCN1A were set to Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A
Publications for SCN1A were set to Claes et al (2001) Am J Hum Genet 68: 1327_1332; Escayg et al (2000) Nature Genet 24: 343-345
Mode of inheritance for SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SCN1A was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN1A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
SCN1A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert