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  2. Lissencephaly and Band Heterotopia
  3. TUBA1A
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Lissencephaly and Band Heterotopia

Gene: TUBA1A

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Both LOF and dominant negative reported for missense, however dominant negative the prevalent molecular consequence
Created: 30 Jan 2020, 10:14 p.m. | Last Modified: 30 Jan 2020, 10:14 p.m.
Panel Version: 0.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 3

Publications

Mode of pathogenicity
Other

Created: 30 Jan 2020, 10:14 p.m.
Last Modified: 30 Jan 2020, 10:14 p.m.
Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Lissencephaly 3, MIM#611603
OMIM
602529
Clinvar variants
Variants in TUBA1A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tuba1a has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBA1A were set to

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TUBA1A was changed from to Other

31 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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 Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TUBA1A was set to Unknown