Tubulinopathies
Gene: TUBB3

TUBB3 (tubulin beta 3 class III)
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe DD/ID, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved.

Multiple unrelated families reported. Note variants in this gene are also associated with CFEOM.
Created: 16 Jan 2021, 10:06 a.m. | Last Modified: 16 Jan 2021, 10:06 a.m.

Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039

Publications

Created: 16 Jan 2021, 10:06 a.m.
Last Modified: 16 Jan 2021, 10:06 a.m.
Panel version: 0.22

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039

OMIM

602661

Clinvar variants

Variants in TUBB3

Penetrance

None

Publications

Panels with this gene