Malformations of cortical development

Gene: TUBB2A

Green List (high evidence)

Associated with Cortical dysplasia, complex, with other brain malformations 5 in OMIM and G2P (confirmed).

PMID: 32571897 (2020) - 12 patients with eight novel and one recurrent variants in the TUBB2A gene. Phenotypic features included seizures (11/12), intellectual disability (12/12), speech impairment (12/12), severe motor developmental delay (11/12) with 4 patients being non-ambulatory.

A spectrum of brain malformations was reported in 11/12 participants, including tubulinopathy-related dysgyria of varying severity (7/12), abnormal corpus callosum (8/12), enlarged lateral ventricles (8/12), and dysmorphic basal ganglia (4/12). Four patients had mild hypoplasia of the cerebellar vermis and/or a dysmorphic vermis; the cerebellar hemispheres were hypoplastic in one patient. However, none exhibited any cerebellar signs or had any progressive cerebellar atrophy.

Created: 30 Jul 2020, 3:24 p.m. | Last Modified: 30 Jul 2020, 3:24 p.m.

Panel Version: 2.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 5, 615763

Publications

• 32571897

Green List (high evidence)

Recognised on G2P and offered on UKGTN

Created: 19 Dec 2016, 10:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 5 615763

Publications

• 24702957