Genetic epilepsy syndromesGene: STX1B
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 generalised epilepsy with febrile seizures. Lerche et al 2001 & Schubert et al, 2014 - 5 generation German family where 18 individuals experienced early onset/febrile seizures - 6 indivdiuals with the core phenotype and carried the variant. The rest = atypical phenotype and thought to be affected - did not carry the variant. All patients seizure free later in childhood. Weber at al 2008 - 4 generation German family where 8 individuals had seizures - all seizure free later in childhood. Moller et al, 2016 - 216 patient epilepsy cohort - 4 de novo STX1B variants detected.
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
Generalized epilepsy with febrile seizures plus, 616172
Comment on mode of inheritance: Monoallelic confirmed on G2P and OMIM, and not on imprinted gene list.
Created: 29 Jan 2016, 12:54 p.m.
Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, 616172
Mode of inheritance for gene: STX1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Wessex and West Midlands GLH was added to STX1B.
Source NHS GMS was added to STX1B.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to STX1B. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to STX1B. Panel: Genetic Epilepsy Syndromes
STX1B was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
STX1B was created by Sarah Leigh