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  2. Tubulinopathies
  3. TUBA1A
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Tubulinopathies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 16 Jan 2021, 9:49 a.m. | Last Modified: 16 Jan 2021, 9:49 a.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 3, MIM# 611603

Publications

Created: 16 Jan 2021, 9:49 a.m.
Last Modified: 16 Jan 2021, 9:49 a.m.
Panel version: 0.15

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
OMIM
602529
Clinvar variants
Variants in TUBA1A
Penetrance
None
Panels with this gene

History Filter Activity

16 Jan 2021, 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 Tubulinopathies_AustralianGenomics_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