PanelApp (stage)
  1. Genes and Genomic Entities
  2. NOL3

NOL3

nucleolar protein 3
OMIM: 605235, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red NOL3 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoclonus, familial, 1 MIM#614937

Red NOL3 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoclonus, familial, 1 - MIM#614937

Red NOL3 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 Red
    • Royal Melbourne Hospital
    Phenotypes
    • Myoclonus, familial cortical