Tubulinopathies
Gene: TUBB2B

TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B 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-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia.

Multiple unrelated families reported.
Created: 16 Jan 2021, 10 a.m. | Last Modified: 16 Jan 2021, 10 a.m.

Panel Version: 0.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031

Publications

Created: 16 Jan 2021, 10 a.m.
Last Modified: 16 Jan 2021, 10 a.m.
Panel version: 0.19

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 7, MIM# 610031

OMIM

612850

Clinvar variants

Variants in TUBB2B

Penetrance

None

Publications

Panels with this gene