PanelApp
  1. Genes and Genomic Entities
  2. TUBB2A

TUBB2A

tubulin beta 2A class IIa
OMIM: 615101, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TUBB2A 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 5, MIM# 615763

    Green TUBB2A 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# 615763

    Green TUBB2A in Mendeliome


    Version 1.2374

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5 MIM#615763

    Green TUBB2A 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
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5, MIM#615763

    Green TUBB2A in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green TUBB2A 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
    • Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763

    Red TUBB2A in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    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
    • ?progressive spastic ataxia syndrome resembling sacsinopathy
    • Complex cortical dysplasia with other brain malformations 5, 615763

    Green TUBB2A in Fetal anomalies


    Version 1.314

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763
    • Complex cortical dysplasia with other brain malformations 5, MONDO:0014337