1. Genes and Genomic Entities
  2. TBP

TBP

TATA-box binding protein
OMIM: 600075, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Red TBP in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review Other
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia 17, OMIM:607136
  • {Parkinson disease, susceptibility to}, OMIM:168600
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red TBP in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review Other
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red TBP in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review Other
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red TBP in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		review Other
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red TBP in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Other
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red TBP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Other
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red TBP in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Other
    Sources
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red TBP in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Other
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green TBP_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.128

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • STR
    Green TBP_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.84

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • STR
    Green TBP_CAG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR
    Amber TBP_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Level 2: Neurology
    Version 8.63
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR
    • watchlist
    Green TBP_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR
    Red TBP_CAG STR in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • STR
    Green TBP_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR
    Amber TBP_CAG STR in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR
    Green TBP_CAG STR in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR
    Green TBP_CAG STR in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • STR
    Green TBP_CAG STR in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR
    Green TBP_CAG STR in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    • {Parkinson disease, susceptibility to}, OMIM:168600
    Tags
    • STR
    Green TBP_CAG STR in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 17, OMIM:607136
    Tags
    • STR