TUBB4A

tubulin beta 4A class IVa
OMIM: 602662, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red TUBB4A in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Green TUBB4A 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
    • Dystonia 4, torsion, autosomal dominant, OMIM #128101
    • Leukodystrophy, hypomyelinating, 6, OMIM # 612438

    Green TUBB4A in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dystonia 4, torsion, autosomal dominant, OMIM #128101
    • Leukodystrophy, hypomyelinating, 6, OMIM # 612438

    Green TUBB4A 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
    • Leukodystrophy, hypomyelinating, 6, OMIM # 612438

    Green TUBB4A in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green TUBB4A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

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

    Green TUBB4A 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
    • hypomyelinating leukodystrophy 6 MONDO:0012905

    Green TUBB4A 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, 612438
    • Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438
    • Dystonia 4, torsion, autosomal dominant, 128101

    Green TUBB4A in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • hereditary whispering dysphonia
    • Dystonia 4, torsion, autosomal dominant, 128101
    • Dystonia

    Green TUBB4A in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, MIM# 612438

    Green TUBB4A in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, MIM#612438

    Amber TUBB4A 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 Amber
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • ataxia
    • Leukodystrophy, hypomyelinating, 612438 AD
    • Dystonia 4, torsion, autosomal dominant, 128101

    Green TUBB4A 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
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, MIM# 612438

    Green TUBB4A in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, MIM# 602662