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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. TUBA1A
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Cerebellar and Pontocerebellar Hypoplasia

Gene: TUBA1A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Complex brain malformations, classically manifesting as lissencephaly rather than PCH, although global hypoplasia including of the brainstem/cerebellar vermis is observed.
Created: 15 Feb 2021, 7:09 a.m. | Last Modified: 15 Feb 2021, 7:09 a.m.
Panel Version: 0.219

Phenotypes
Lissencephaly 3, MIM# 611603

Created: 15 Feb 2021, 7:09 a.m.
Last Modified: 15 Feb 2021, 7:09 a.m.
Panel version: 0.219

History Filter Activity

15 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuba1a has been classified as Red List (Low Evidence).

15 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603

15 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuba1a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBA1A was added gene: TUBA1A was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUBA1A was set to Unknown