TUBB2B

tubulin beta 2B class IIb
OMIM: 612850, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red TUBB2B 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

Red TUBB2B in White matter disorders and cerebral calcification - narrow panel


Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Cerebral Malformation Disorders

    Green TUBB2B 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
    • complex cortical dysplasia with other brain malformations-7 , 610031

    Green TUBB2B 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
    Phenotypes
    • Polymicrogyria, symmetric or asymmetric 610031

    Red TUBB2B 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 Red
    • Wessex and West Midlands GLH
    • Literature
    Phenotypes
    • congenital fibrosis of extraocular muscles, MONDO:0007614

    Red TUBB2B in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.159

    review Not set
    Sources
    • UKGTN
    Phenotypes
    • Cerebral Malformation Disorders

    Green TUBB2B 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
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • complex cortical dysplasia with other brain malformations-7 , 610031

    Green TUBB2B in Fetal anomalies


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

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • POLYMICROGYRIA ASYMMETRIC

    Green TUBB2B 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 Green
    Phenotypes
    • POLYMICROGYRIA ASYMMETRIC 610031

    Green TUBB2B 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 7, 610031

    Green TUBB2B 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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Polymicrogyria, symmetric or asymmetric, 610031
    • POLYMICROGYRIA ASYMMETRIC (PMGA)

    Green TUBB2B 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 7, 610031

    Red TUBB2B 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 TUBB2B 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
    • Cortical dysplasia, complex, with other brain malformations 7, 610031