NOP56

NOP56 ribonucleoprotein
OMIM: 614154, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

No list NOP56 in Mendeliome


Version 1.1891

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

No list NOP56 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

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

No list NOP56 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • Royal Melbourne Hospital
    Phenotypes
    • Spinocerebellar ataxia 36, 614153
    Tags
    • STR

    Green SCA36 STR in Mendeliome


    Version 1.1891

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

    Green SCA36 STR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

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

    Green SCA36 STR in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • 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 SCA36 STR in Repeat Disorders


    Version 0.167

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