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DDG2P

Gene: TUBB3

Green List (high evidence)
TUBB3 (tubulin beta 3 class III)
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB3-related cortical dysplasia, complex, with other brain malformations are strong, monoallelic_autosomal and undetermined (PMIDs: 20074521, 20829227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00755.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 20829227;20074521).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0013541; TUBB3-related cortical dysplasia, complex, with other brain malformations; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; OMIM:614039.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame.
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638
  • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039
OMIM
602661
Clinvar variants
Variants in TUBB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TUBB3 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TUBB3. Mode of pathogenicity for gene TUBB3 was changed from Other - please provide details in the comments to Other Publications for gene: TUBB3 were updated from 20829227 to 20074521; 20829227 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039 for gene: TUBB3 Publications for gene TUBB3 were changed from 20074521 to 20829227

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TUBB3 was added gene: TUBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB3 were set to 20074521 Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638 Mode of pathogenicity for gene: TUBB3 was set to Other - please provide details in the comments