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Mendeliome

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 30 Jul 2020, 11:49 p.m. | Last Modified: 30 Jul 2020, 11:49 p.m.
Panel Version: 0.3611

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Arina Puzriakova (Genomics England)

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, 3:19 p.m. | Last Modified: 30 Jul 2020, 3:19 p.m.
Panel Version: 0.3590

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a prominent feature of the condition. Spastic ataxia has only been reported in a single case.
Created: 17 Apr 2020, 1:50 a.m. | Last Modified: 17 Apr 2020, 1:50 a.m.
Panel Version: 0.157

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5 MIM#615763
OMIM
615101
Clinvar variants
Variants in TUBB2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2020, 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).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5 MIM#615763

30 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB2A were set to

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB2A was added gene: TUBB2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUBB2A was set to Unknown