Microcephaly
Gene: TUBB2B

TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 11 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 19465910 4 individuals with de novo variants had head circumferences < -3SD.

PMID: 22333901 3 individuals with de novo variants were said to be microcephalic but no measurements given.
Created: 2 Sep 2020, 6:16 a.m. | Last Modified: 2 Sep 2020, 6:16 a.m.

Panel Version: 0.291

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Sep 2020, 6:16 a.m.
Last Modified: 2 Sep 2020, 6:16 a.m.
Panel version: 0.291

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

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