1. Genes and Genomic Entities
  2. TUBA8

TUBA8

tubulin alpha 8
OMIM: 605742, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red TUBA8 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.15
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red TUBA8 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Cerebral Malformation Disorders
    Amber TUBA8 in Ataxia and cerebellar anomalies - narrow panel


    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Polymicrogyria with optic nerve hypoplasia, 613180
    Amber TUBA8 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.26
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Polymicrogyria with optic nerve hypoplasia 613180
    Tags
    • watchlist
    Red TUBA8 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    		review Not set
    Sources
    • UKGTN
    Phenotypes
    • Cerebral Malformation Disorders
    Amber TUBA8 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Emory Genetics Laboratory
    • Literature
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Polymicrogyria with optic nerve hypoplasia, 613180
    Tags
    • watchlist
    Amber TUBA8 in Cytopenia - NOT Fanconi anaemia


    Version 3.32
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840
    Amber TUBA8 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
    • Cortical dysplasia, complex, with other brain malformations 8, 613180
    Red TUBA8 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180
    Amber TUBA8 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 8, 613180
    • seizures
    Tags
    • watchlist
    Red TUBA8 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Polymicrogyria with optic nerve hypoplasia, 613180
    • POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA (PMGONH)
    Tags
    • watchlist
    Red TUBA8 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Complex cortical dysplasia with other brain malformations 8, 613180
    Red TUBA8 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green TUBA8 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 8, 613180