PSMB9

proteasome subunit beta 9
OMIM: 177045, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PSMB9 in COVID-19 research


Level 2: Viral research
Version 1.130

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • North West GLH
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
  • Autoinflammation, lipodystrophy, and dermatosis syndrome

Amber PSMB9 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • North West GLH
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
  • digenic

Green PSMB9 in Autoinflammatory disorders

Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 0.37

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
  • Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
Tags
  • digenic