Cerebral Palsy
Gene: TUBA1A

TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Lissencephaly 3, MIM# 611603

Created: 2 Nov 2020, 5:23 a.m.
Last Modified: 2 Nov 2020, 5:23 a.m.
Panel version: 0.53

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

3 de novo CP families reported
Created: 2 Nov 2020, 4:33 a.m. | Last Modified: 2 Nov 2020, 4:49 a.m.

Panel Version: 0.43

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

Phenotypes
Cerebral Palsy (PMID:32989326)

Publications

Created: 2 Nov 2020, 4:33 a.m.
Last Modified: 2 Nov 2020, 4:49 a.m.
Panel version: 0.43

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lissencephaly 3, MIM# 611603
Cerebral palsy

OMIM

602529

Clinvar variants

Variants in TUBA1A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBA1A were changed from Cerebral Palsy (PMID:32989326) to Lissencephaly 3, MIM# 611603; Cerebral palsy

2 Nov 2020, Gel status: 3