PPP2R2B

protein phosphatase 2 regulatory subunit Bbeta
OMIM: 604325, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red PPP2R2B in Ataxia and cerebellar anomalies - narrow panel


Version 2.190
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellarataxia12,604326

    Red PPP2R2B in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.223

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Spinocerebellarataxia12,604326
    Tags
    • watchlist
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red PPP2R2B in Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    review Unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellarataxia12,604326
    Tags
    • watchlist
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red PPP2R2B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1125
    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 Other - please specify in evaluation comments
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spinocerebellar ataxia 12, 604326
    Tags
    • watchlist
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red PPP2R2B in Hereditary ataxia - adult onset


    Version 2.71
    Latest signed off version: v2.13 (6 Oct 2020)

    review Unknown
    Sources
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellarataxia12,604326
    Tags
    • watchlist
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red PPP2R2B in Adult onset movement disorder


    Version 1.118
    Latest signed off version: v1.14 (15 Oct 2020)

    review Not set
    Sources
    • NHS GMS
    • London North GLH

    Amber PPP2R2B in Childhood onset dystonia or chorea or related movement disorder


    Version 1.126
    Latest signed off version: v1.58 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 12, 604326

    Green PPP2R2B in Severe Paediatric Disorders


    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12, 604326

    Green PPP2R2B_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.70

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR

    Amber PPP2R2B_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.190
    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 Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR
    • for-review

    Green PPP2R2B_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.223

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR

    Green PPP2R2B_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.226

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR

    Amber PPP2R2B_CAG STR in Hereditary spastic paraplegia - childhood onset


    Version 2.40
    Latest signed off version: v2.18 (8 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR

    Green PPP2R2B_CAG STR in Hereditary spastic paraplegia - adult onset


    Version 1.23
    Latest signed off version: v1.12 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR

    Amber PPP2R2B_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR
    • for-review

    Amber PPP2R2B_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    • Adult onset cerebellar ataxia, tremor of head and arms, subclinical sensory-motor axonal neuropathy
    • neuropathy minor feature
    Tags
    • STR

    No list PPP2R2B_CAG STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1125
    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
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR
    • curated_removed

    Green PPP2R2B_CAG STR in Hereditary ataxia - adult onset


    Version 2.71
    Latest signed off version: v2.13 (6 Oct 2020)

    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 12 604326
    Tags
    • STR

    Amber PPP2R2B_CAG STR in Adult onset movement disorder


    Version 1.118
    Latest signed off version: v1.14 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 12 604326
    Tags
    • STR
    • for-review