TUBA4A

tubulin alpha 4a
OMIM: 191110, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TUBA4A in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208

    Green TUBA4A in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208

    Amber TUBA4A in Incidentalome


    Version 0.301

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208

    Green TUBA4A in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital myopathy MONDO:0019952

    Amber TUBA4A in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital myopathy MONDO:0019952

    Green TUBA4A in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary ataxia MONDO:0100309, TUBA4A-related

    Green TUBA4A 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
    • Literature
    Phenotypes
    • Hereditary ataxia MONDO:0100309, TUBA4A-related

    Green TUBA4A in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary ataxia MONDO:0100309, TUBA4A-related

    Green TUBA4A in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.76

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hereditary ataxia MONDO:0100309, TUBA4A-related