PSMB4:Ensemblv90

proteasome subunit beta 4
OMIM: 602177, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber PSMB4 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

Amber PSMB4 in Mendeliome


Version 1.3802

1 review Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

Amber PSMB4 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.40

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review Other
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

    Amber PSMB4 in Lipodystrophy_Lipoatrophy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

    Amber PSMB4 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

    1 review Other
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Amber
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591