Epileptic encephalopathy
Gene: SCN1B
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1
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, 11:52 a.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.Created: 21 Jan 2016, 11:51 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for SCN1B were set to Epilepsy, generalized, with febrile seizures plus, type 1
Publications for SCN1B were set to Wallace et al (2002) Neurology 58: 1426-1429
Mode of inheritance for SCN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SCN1B was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
SCN1B was added to Epileptic encephalopathypanel. Sources: Expert