Research panel - Severe Paediatric Disorders
Gene: TUBB2A

TUBB2A (tubulin beta 2A class IIa)
EnsemblGeneIds (GRCh38): ENSG00000137267
EnsemblGeneIds (GRCh37): ENSG00000137267
OMIM: 615101, Gene2Phenotype
TUBB2A is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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, 3:27 p.m. | Last Modified: 30 Jul 2020, 3:27 p.m.

Panel Version: 1.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

32571897

Created: 30 Jul 2020, 3:27 p.m.
Last Modified: 30 Jul 2020, 3:27 p.m.
Panel version: 1.10

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TUBB2A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, 615763 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
Complex cortical dysplasia with other brain malformations 5, MONDO:0014337

OMIM

615101

Clinvar variants

Variants in TUBB2A

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

7 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

20 Feb 2020, Gel status: 3