Early onset or syndromic epilepsy
Gene: TUBB2B
AD complex cortical dysplasia, Focal seizures have been reported on OMIM as a feature.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
Cortical dysplasia complex with other brain malformations 7, 610031
Publications
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
Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three variants in unrelated cases (PMIDs:19465910 and 22333901).Created: 20 Sep 2018, 3:23 p.m.
Comment on list classification: Updated rating from Amber to Green: >3 patients with heterozygous TUBB2B variants exhibited seizures as part of brain malformation disorder.Created: 20 Sep 2018, 3:22 p.m.
PMID:19465910 (Jaglin et al 2009) report epilepsy in three of five unrelated patients with three distinct TUBB2B variants. PMID:22333901 (Guerrini et al 2012) identified 3 different heterozygous variants in TUBB2B in three unrelated patients, one of which exhibited seizures.Created: 20 Sep 2018, 3:17 p.m.
Seizures are part of the phenotype of this brain development disorder.Created: 22 Aug 2018, 7:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 7, MIM#610031
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7, 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Source Wessex and West Midlands GLH was added to TUBB2B.
Source NHS GMS was added to TUBB2B.
Zornitza Stark: Seizures are part of the pheno
Gene: tubb2b has been classified as Green List (High Evidence).
Gene: tubb2b has been classified as Green List (High Evidence).
Publications for gene: TUBB2B were set to
Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, 610031
Expert Review Amber was added to TUBB2B. Panel: Genetic Epilepsy Syndromes
TUBB2B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TUBB2B was created by Sarah Leigh