Epileptic encephalopathy
Gene: STXBP1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Monoallelic confirmed on G2P and OMIM. Not on the imprinted gene list.Created: 29 Jan 2016, 12:46 p.m.
Comment on list classification: Reviewers later agreed that this gene should be green. It is a confirmed DD gene for Epileptic encephalopathy.Created: 29 Jan 2016, 12:33 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for STXBP1 were set to Epileptic encephalopathy, early infantile, 4
Publications for STXBP1 were set to Saitsu et al (2008) Nature Genet 40 (6): 782-788
Mode of inheritance for STXBP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
The Gel status was updated for this whole panel
STXBP1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene STXBP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
STXBP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene STXBP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
STXBP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene STXBP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
STXBP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
STXBP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert