Early onset or syndromic epilepsy

Gene: TUBB2B

Green List (high evidence)

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

• 19465910

I don't know

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.

Green List (high evidence)

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