TBP_CAG

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green TBP_CAG STR in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.120

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 1.83

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 1.80

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


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 1.332

    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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    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 1.308

    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


    Version 4.39
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    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


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    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


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

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