PSMB10

proteasome subunit beta 10
OMIM: 176847, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PSMB10 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
  • Severe combined immunodeficiency, MONDO:0015974, PSMB10-related

Green PSMB10 in Severe Combined Immunodeficiency (absent T absent B cells)


Level 2: Immunological disorders
Version 1.7

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Severe combined immunodeficiency, MONDO:0015974, PSMB10-related

    Green PSMB10 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 5, MIM# 619175