1. Genes and Genomic Entities
  2. TUBB2A

TUBB2A

tubulin beta 2A class IIa
OMIM: 615101, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red TUBB2A in Cerebral vascular malformations


Level 2: Neurology
Version 5.1
Latest signed off version: v5.0 (6 May 2026)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
  • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Green TUBB2A in Malformations of cortical development


Level 2: Neurology
Version 8.3
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Other
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
    • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
    Green TUBB2A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.7
    Latest signed off version: v7.0 (6 May 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
    • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
    Green TUBB2A in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763
    Green TUBB2A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
    • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
    Green TUBB2A in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
    • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
    Red TUBB2A in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
    • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337