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  3. TUBB2B
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Cerebral Palsy

Gene: TUBB2B

Green List (high evidence)
TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 11 panels

3 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

3 additional individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).
Created: 27 May 2024, 2:56 p.m. | Last Modified: 27 May 2024, 2:56 p.m.
Panel Version: 1.194

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 7, MIM#610031

Publications

Created: 27 May 2024, 2:56 p.m.
Last Modified: 27 May 2024, 2:56 p.m.
Panel version: 1.194

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Four individuals patients in two large CP cohort studies presenting with de novo heteroyzgous mutations in TUBB2B.
Created: 8 Jun 2023, 11:21 a.m. | Last Modified: 8 Jun 2023, 11:21 a.m.
Panel Version: 1.86

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations MIM#610031

Publications

Created: 8 Jun 2023, 11:21 a.m.
Last Modified: 8 Jun 2023, 11:21 a.m.
Panel version: 1.86

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Moreno-De-Luca et al. (2021) reported 3 patients with CP with de novo P/LP variants, but common presentation is with cortical malformations
Created: 7 Oct 2021, 1 a.m. | Last Modified: 7 Oct 2021, 1 a.m.
Panel Version: 1.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 7 Oct 2021, 1 a.m.
Last Modified: 7 Oct 2021, 1 a.m.
Panel version: 1.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031
OMIM
612850
Clinvar variants
Variants in TUBB2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb2b has been classified as Green List (High Evidence).

9 Jun 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB2B were set to PMID: 33528536

9 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb2b has been classified as Green List (High Evidence).

7 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb2b has been classified as Red List (Low Evidence).

7 Oct 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: TUBB2B was added gene: TUBB2B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2B were set to PMID: 33528536 Phenotypes for gene: TUBB2B were set to Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031 Review for gene: TUBB2B was set to RED