UBQLN2

ubiquilin 2
OMIM: 300264, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green UBQLN2 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)

    Green UBQLN2 in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis type 15 (MONDO:0010459
    • MIM#300857)

    Green UBQLN2 in Incidentalome


    Version 0.301

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

    Green UBQLN2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

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