TUBB4A

tubulin beta 4A class IVa
OMIM: 602662, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green TUBB4A in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Complex parkinsonism
  • Dystonia
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • hereditary whispering dysphonia
  • Dystonia
  • hypomyelinating leukodystrophy 6

Green TUBB4A in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dystonia
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • hereditary whispering dysphonia

Green TUBB4A in White matter disorders and cerebral calcification - narrow panel


Version 1.26
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, 612438
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Leukodystrophy, hypomyelinating 6
    • Dystonia 4, torsion, autosomal dominant, 128101

    Green TUBB4A in Ataxia and cerebellar anomalies - narrow panel


    Version 2.31
    Signed off v.2.23 on 8 Oct 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, 612438
    • Dystonia 4, torsion, autosomal dominant, 128101

    Green TUBB4A in White matter disorders - adult onset


    Version 1.7
    Signed off v.1.6 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, 612438

    Green TUBB4A in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, 612438
    • Dystonia 4, torsion, autosomal dominant, 128101

    Green TUBB4A in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.17

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6 612438

    Green TUBB4A in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dystonia 4, torsion, autosomal dominant, 128101
    • Leukodystrophy, hypomyelinating, 6, 612438
    • Leukodystrophy, hypomyelinating 6
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green TUBB4A in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.217

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Dystonia 4, torsion, autosomal dominant 128101
    • Leukodystrophy, hypomyelinating, 6 612438
    • ataxia

    Green TUBB4A in Hereditary spastic paraplegia - childhood onset


    Version 2.19
    Signed off v.2.18 on 8 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6 612438
    • ataxia
    • Dystonia 4, torsion, autosomal dominant 128101

    Green TUBB4A in Hereditary spastic paraplegia - adult onset


    Version 1.13
    Signed off v.1.12 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Dystonia 4, torsion, autosomal dominant, 128101
    • ataxia
    • Leukodystrophy, hypomyelinating, 612438 AD

    Amber TUBB4A in Neurodegenerative disorders - adult onset


    Version 2.33
    Signed off v.2.31 on 8 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6 612438
    • ?Dystonia 4, torsion, autosomal dominant, 128101
    • hypomyelinating leukodystrophy 6
    • Implicated autosomal dominant variants in two families with ataxia
    • Dystonia
    • Torsion dystonia 4 (128101) - some individuals with ataxia
    • ataxia
    • hereditary whispering dysphonia
    • Complex parkinsonism
    • hypomyelinating leukodystrophy 6 (612438) - ataxia reported.
    • Dystonia 4, torsion, autosomal dominant 128101

    Green TUBB4A in Fetal anomalies


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM

    Green TUBB4A in DDG2P


    Version 2.12
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM

    Green TUBB4A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.224
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, 612438

    Green TUBB4A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.565
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC)

    Green TUBB4A in Hereditary ataxia - adult onset


    Version 2.17
    Signed off v.2.13 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Dystonia 4, torsion, autosomal dominant, 128101
    • Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438
    • Leukodystrophy, hypomyelinating, 6, 612438

    Green TUBB4A in Adult onset movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Complex parkinsonism
    • hypomyelinating leukodystrophy 6
    • ?Dystonia 4, torsion, autosomal dominant, 128101
    • Dystonia
    • hereditary whispering dysphonia

    Green TUBB4A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • hereditary whispering dysphonia
    • ?Dystonia 4, torsion, autosomal dominant, 128101
    • Dystonia
    • Leukodystrophy, hypomyelinating, 6 612438

    Green TUBB4A in Severe Paediatric Disorders


    Version 1.19

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 6, 612438
    • Dystonia 4, torsion, autosomal dominant, 128101