PSMB10

proteasome subunit beta 10
OMIM: 176847, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber PSMB10 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Proteasome-associated autoinflammatory syndrome (PRAAS)
Red PSMB10 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.27
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Immunodeficiency 121 with autoinflammation, OMIM:620807
Amber PSMB10 in Intestinal failure or congenital diarrhoea


Level 2: Gastrohepatology
Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 121 with autoinflammation, OMIM:620807
  • Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Tags
  • Q1_26_promote_green
Amber PSMB10 in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.18
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 121 with autoinflammation, OMIM:620807
  • Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Tags
  • Q1_26_promote_green
Green PSMB10 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Immunodeficiency 121 with autoinflammation, OMIM:620807
  • Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Tags
  • Q1_26_MOI
  • Q1_26_NHS_review
Amber PSMB10 in Autoinflammatory disorders


Level 2: Immunology
Version 2.39
Latest signed off version: v2.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 121 with autoinflammation, OMIM:620807
  • Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Tags
  • Q1_26_promote_green