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Tubulinopathies
Gene: TUBB

TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Created: 16 Jan 2021, 9:55 a.m. | Last Modified: 16 Jan 2021, 9:55 a.m.

Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771

Publications

Created: 16 Jan 2021, 9:55 a.m.
Last Modified: 16 Jan 2021, 9:55 a.m.
Panel version: 0.16

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

Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771

OMIM

Clinvar variants

Variants in TUBB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB were set to

16 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBB 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: TUBB was added gene: TUBB 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: TUBB was set to Unknown