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Fetal anomalies

Gene: TUBB2A

Green List (high evidence)
TUBB2A (tubulin beta 2A class IIa)
EnsemblGeneIds (GRCh38): ENSG00000137267
EnsemblGeneIds (GRCh37): ENSG00000137267
OMIM: 615101, Gene2Phenotype
TUBB2A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. PMID: 32571897 (2020) - 12 patients with eight novel and one recurrent variants in the TUBB2A gene. Phenotypic features included seizures (11/12), intellectual disability (12/12), speech impairment (12/12), severe motor developmental delay (11/12) with 4 patients being non-ambulatory.

A spectrum of brain malformations was reported in 11/12 participants, including tubulinopathy-related dysgyria of varying severity (7/12), abnormal corpus callosum (8/12), enlarged lateral ventricles (8/12), and dysmorphic basal ganglia (4/12). Four patients had mild hypoplasia of the cerebellar vermis and/or a dysmorphic vermis; the cerebellar hemispheres were hypoplastic in one patient. However, none exhibited any cerebellar signs or had any progressive cerebellar atrophy.
Created: 30 Jul 2020, 11:54 p.m. | Last Modified: 30 Jul 2020, 11:54 p.m.
Panel Version: 0.2797

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763

Publications

Created: 30 Jul 2020, 11:54 p.m.
Last Modified: 30 Jul 2020, 11:54 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2797

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
  • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
OMIM
615101
Clinvar variants
Variants in TUBB2A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb2a has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB2A were set to 28840640; 30016746; 25326637; 27770045; 24702957

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBB2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB2A was added gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2A were set to 28840640; 30016746; 25326637; 27770045; 24702957 Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Mode of pathogenicity for gene: TUBB2A was set to Other