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Fetal anomalies

Gene: TUBB3

Green List (high evidence)
TUBB3 (tubulin beta 3 class III)
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 11 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple unrelated families with complex cortical dysplasia and other brain malformations (frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, dysplasia of the cerebellar vermis, hypoplastic brainstem, and hypoplastic corpus callosum. Patients have heterozygous missense mutations in TUBB3 gene. In vitro functional expression studies of some missense mutations resulted in impairment of the tubulin heterodimerization process or caused impaired microtubule stability.

Suitable for fetal anomalies panel.
Created: 13 Jan 2022, 5:36 a.m. | Last Modified: 13 Jan 2022, 5:36 a.m.
Panel Version: 0.2004

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039; Fibrosis of extraocular muscles, congenital, 3A, OMIM # 600638

Publications

Created: 13 Jan 2022, 5:36 a.m.
Last Modified: 13 Jan 2022, 5:36 a.m.
Panel version: 0.2004

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039
OMIM
602661
Clinvar variants
Variants in TUBB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb3 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB3 were changed from CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES to Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB3 were set to 32573066

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tubb3 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB3 was added gene: TUBB3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB3 were set to 32573066 Phenotypes for gene: TUBB3 were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES