PSMD12

proteasome 26S subunit, non-ATPase 12
OMIM: 604450, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PSMD12 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stankiewicz-Isidor syndrome, MIM# 617516

Green PSMD12 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.3

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Stankiewicz-Isidor syndrome MONDO:0054591

    Green PSMD12 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Stankiewicz-Isidor syndrome, MIM# 617516