Malformations of cortical development
Gene: TUBB2A
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
Recognised on G2P and offered on UKGTNCreated: 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
Phenotypes for gene: TUBB2A were changed from Cortical dysplasia, complex, with other brain malformations 5 615763 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Publications for gene: TUBB2A were set to 24702957
Phenotypes for TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5 615763
Publications for TUBB2A were set to 24702957
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TUBB2A was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Promoted to Version 1 on 22nd November 2016
TUBB2A was added to Malformations of cortical developmentpanel. Sources: Other
TUBB2A was created by sleigh