PSMB9

proteasome subunit beta 9
OMIM: 177045, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PSMB9 in COVID-19 research


Level 2: Viral research
Version 1.146

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 or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

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
Red PSMB9 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 6, OMIM:620796
Green PSMB9 in Autoinflammatory disorders


Level 2: Immunology
Version 2.35
Latest signed off version: v2.0 (1 May 2024)

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