Genetic epilepsy syndromes
Gene: STXBP1
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 Early infantile epileptic encephalopathy - lots of types of seizures reported in association with variants in this gene. Lots of reported variants on OMIM and HGMD Pro.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, 612164
Publications
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.
Source Wessex and West Midlands GLH was added to STXBP1.
Source NHS GMS was added to STXBP1.
Ellen McDonagh: Comment on list classification
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to STXBP1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to STXBP1. Panel: Genetic Epilepsy Syndromes
STXBP1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
STXBP1 was created by Sarah Leigh