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DDG2P

Gene: TUBB

Green List (high evidence)
TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 11 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type) are strong, monoallelic_autosomal and undetermined (PMIDs: 23246003, 23324645, 26637975, 34211110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01654.
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 6, OMIM:615771 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23246003). The DDG2P confidence category for the disease Circumferential Skin Creases Kunze Type, OMIM:156610 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26637975).
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:0020738; Circumferential Skin Creases Kunze Type, OMIM:156610; OMIM:156610.0; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771; TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type)

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: confirmed (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
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Circumferential Skin Creases Kunze Type 156610
  • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771
OMIM
191130
Clinvar variants
Variants in TUBB
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: TUBB was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene TUBB was changed from Other - please provide details in the comments to Other Publications for gene: TUBB were updated from 26637975 to 23246003; 26637975

3 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TUBB were changed from Circumferential Skin Creases Kunze Type; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 to Circumferential Skin Creases Kunze Type 156610; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes Circumferential Skin Creases Kunze Type for gene: TUBB Publications for gene TUBB were changed from 23246003 to 26637975

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TUBB was added gene: TUBB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB were set to 23246003 Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 Mode of pathogenicity for gene: TUBB was set to Other - please provide details in the comments