Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of the tubulinopathies.
Sources: Expert list
Created: 26 Jan 2020, 5:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
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

26 Jan 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).

26 Jan 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).

26 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB2A was added gene: TUBB2A was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2A were set to 24702957; 25326637 Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, MIM#615763 Review for gene: TUBB2A was set to GREEN gene: TUBB2A was marked as current diagnostic