Cerebellar and Pontocerebellar Hypoplasia
Gene: TUBB3

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

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

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

Created: 1 Dec 2021, 2 a.m.
Last Modified: 1 Dec 2021, 2 a.m.
Panel version: 1.20

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Brainstem and cerebellar hypoplasia as part of a complex brain malformation syndrome.
Created: 14 Feb 2021, 7:34 a.m. | Last Modified: 14 Feb 2021, 7:34 a.m.

Panel Version: 0.210

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 14 Feb 2021, 7:34 a.m.
Last Modified: 14 Feb 2021, 7:34 a.m.
Panel version: 1.20

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 1, MIM# 614039

OMIM

602661

Clinvar variants

Variants in TUBB3

Penetrance

None

Panels with this gene