White matter disorders and cerebral calcification - narrow panel
Gene: TUBA1A

TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels

0 reviews

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Lissencephaly 3
Lissencephaly, Dominant
Cerebral Malformation Disorders
Lissencephaly 3, 611603

OMIM

602529

Clinvar variants

Variants in TUBA1A

Penetrance

None

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TUBA1A was added gene: TUBA1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBA1A were set to Lissencephaly 3; Lissencephaly, Dominant; Cerebral Malformation Disorders; Lissencephaly 3, 611603