TUBA1A

tubulin alpha 1a
OMIM: 602529, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green TUBA1A in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.19

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
    • Lissencephaly 3, MIM#611603

    Green TUBA1A 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 TUBA1A 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

    Red TUBA1A in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.65

    review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603

    Green TUBA1A in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603
    • Cerebral palsy

    Green TUBA1A in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603
    • Congenital fibrosis of the extraocular muscles, AD

    Green TUBA1A 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
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, MIM# 611603

    Green TUBA1A in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green TUBA1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Red TUBA1A in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 3, 611603

    Red TUBA1A 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

    Green TUBA1A in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital fibrosis of the extraocular muscles, AD

    Green TUBA1A in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Lissencephaly 3, MIM# 611603