TUBB2B

tubulin beta 2B class IIb
OMIM: 612850, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green TUBB2B in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship

    Green TUBB2B in Tubulinopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031

    Amber TUBB2B in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.65

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031

    Green TUBB2B in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031

    Green TUBB2B in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031

    Green TUBB2B in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7 MIM#610031

    Green TUBB2B in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031

    Green TUBB2B in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TUBB2B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7 MIM#610031

    Red TUBB2B in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review Not set
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Cerebral Malformation Disorders

    Red TUBB2B in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Fibrosis of extraocular muscles, congenital
    • Cortical dysplasia, complex, with other brain malformations 7

    Green TUBB2B in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 7 MIM#610031