NOP56

NOP56 ribonucleoprotein
OMIM: 614154, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red NOP56 in Ataxia and cerebellar anomalies - narrow panel


Version 2.110
Signed off v.2.23 on 8 Oct 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellarataxia36,614153

    Red NOP56 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.215

    review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellarataxia36,614153
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red NOP56 in Neurodegenerative disorders - adult onset


    Version 2.174
    Signed off v.2.31 on 8 Oct 2020

    review Other - please specifiy in evaluation comments
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellarataxia36,614153
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red NOP56 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1018
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spinocerebellar ataxia 36, 614153

    Red NOP56 in Hereditary ataxia - adult onset


    Version 2.40
    Signed off v.2.13 on 6 Oct 2020

    review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellarataxia36,614153
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Amber NOP56 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.90
    Signed off v.1.58 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 36, 614153

    Green NOP56 in Severe Paediatric Disorders


    Version 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 36, 614153

    Green NOP56_GGCCTG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 36 614153
    Tags
    • STR

    Amber NOP56_GGCCTG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.110
    Signed off v.2.23 on 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 36 614153
    Tags
    • STR
    • for-review

    Green NOP56_GGCCTG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.215

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 36 614153
    Tags
    • STR

    Amber NOP56_GGCCTG STR in Neurodegenerative disorders - adult onset


    Version 2.174
    Signed off v.2.31 on 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 36 614153
    Tags
    • STR
    • for-review

    Green NOP56_GGCCTG STR in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 36 614153
    Tags
    • STR

    Amber NOP56_GGCCTG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy
    Tags
    • STR

    No list NOP56_GGCCTGTT STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Tags
    • STR
    • curated_removed

    Green NOP56_GGCCTG STR in Hereditary ataxia - adult onset


    Version 2.40
    Signed off v.2.13 on 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 36 614153
    Tags
    • STR