TUBB3

tubulin beta 3 class III
OMIM: 602661, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green TUBB3 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

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 TUBB3 in Tubulinopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.2

    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 1, MIM# 614039

    Green TUBB3 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039

    Green TUBB3 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations MIM#614039

    Green TUBB3 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039
    • Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638

    Green TUBB3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    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
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039

    Green TUBB3 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green TUBB3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • complex cortical dysplasia with other brain malformations 1 MONDO:0013541

    Green TUBB3 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 3A (MIM#600638)
    • Neuropathy

    Green TUBB3 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 3A 600638
    • CFEOM3A

    Green TUBB3 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039