TUBB4A

tubulin beta 4A class IVa
OMIM: 602662, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red TUBB4A in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.49

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 2 reviews 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 1.407

    2 reviews 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 1.4216

    1 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 1.362

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 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 0.588

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TUBB4A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.602

    0 reviews 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 1.638

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • hypomyelinating leukodystrophy 6 MONDO:0012905

    Green TUBB4A in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 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 and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.337

    Component of the following Super Panels:

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

    Green TUBB4A in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

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

    Green TUBB4A in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.139

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 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 1.522

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