TBP

TATA-box binding protein
OMIM: 600075, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

No list TBP in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.12

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • Literature
    Phenotypes
    • Spinocerebellar Ataxia 17
    • Parkinsonism
    • Chorea
    • Seizures
    • Psychosis
    • Dementia
    • OMIM 607136
    Tags
    • STR

    No list TBP in Mendeliome


    Version 1.2374

    review Unknown
    Sources
    • Expert Review Removed
    • Expert list
    • Victorian Clinical Genetics Services
    Tags
    • STR

    No list TBP in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services

    No list TBP in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17 MIM#607136
    Tags
    • STR

    Green SCA17 STR in Early-onset Dementia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.32

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17 MIM#607136

    Green SCA17 STR in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17 MIM#607136

    Green SCA17 STR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17 MIM#607136

    Green SCA17 STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17 MIM#607136
    Tags
    • STR

    Green SCA17 STR in Repeat Disorders


    Version 0.168

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17 MIM#607136
    Tags
    • adult-onset
    • paediatric-onset