TUBB3

tubulin beta 3 class III
OMIM: 602661, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red TUBB3 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2 (2 Mar 2020)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders

Green TUBB3 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 1 614039

    Green TUBB3 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.148
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Other
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 1 614039

    Green TUBB3 in Congenital fibrosis of the extraocular muscles


    Version 1.12
    Latest signed off version: v1.2 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • Literature
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638

    Green TUBB3 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 1 614039

    Green TUBB3 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
    • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES

    Amber TUBB3 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638
    • CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039

    Green TUBB3 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 3A
    • CFEOM3A
    • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES

    Green TUBB3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (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
    • Cortical dysplasia, complex, with other brain malformations 1, 614039

    Green TUBB3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES

    Green TUBB3 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Complex cortical dysplasia with other brain abnormalities 1, 614039

    Amber TUBB3 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
    • CFEOM3A
    • Fibrosis of extraocular muscles, congenital, 3A

    Red TUBB3 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green TUBB3 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 3A, 600638
    • Cortical dysplasia, complex, with other brain malformations 1, 614039