PanelApp (test)
  1. Genes and Genomic Entities
  2. NOP56:Ensemblv90

NOP56:Ensemblv90

NOP56 ribonucleoprotein
OMIM: 614154, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

No list NOP56 in Mendeliome


Version 1.3802

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

No list NOP56 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

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

No list NOP56 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • Royal Melbourne Hospital
    Phenotypes
    • Spinocerebellar ataxia 36, 614153
    Tags
    • STR

    Green NOP56_SCA36_GGCCTG STR in Mendeliome


    Version 1.3802

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

    Green NOP56_SCA36_GGCCTG STR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

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

    Green NOP56_SCA36_GGCCTG STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • 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 36 MIM#614153
    Tags
    • STR

    Green NOP56_SCA36_GGCCTG STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Green NOP56_SCA36_GGCCTG STR in Repeat Disorders


    Version 0.269

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 36 MIM#614153
    Tags
    • adult-onset