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

OPTN

optineurin
OMIM: 602432, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green OPTN 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435)

    Green OPTN 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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)

    Green OPTN in Incidentalome


    Version 0.301

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