NOP56

NOP56 ribonucleoprotein
OMIM: 614154, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

No list NOP56 in Mendeliome


Version 1.3795

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 0.600

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

Green NOP56_SCA36_GGCCTG STR in Mendeliome


Version 1.3795

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 0.600

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


Level 2: Neurology and neurodevelopmental disorders
Version 1.158

Component of the following Super Panels:

  • 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