B2M

beta-2-microglobulin
OMIM: 109700, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red B2M in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.34

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • ?Amyloidosis, familial visceral 105200
Green B2M in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Immunodeficiency 43,241600
  • Immunodeficiency by defective expression of HLA class 1
  • Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c
  • Immunodeficiencies affecting cellular and humoral immunity
Amber B2M in Hereditary systemic amyloidosis


Level 2: Renal
Version 1.28
Latest signed off version: v1.24 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Amyloidosis, familial visceral 105200
    Green B2M in Primary immunodeficiency or monogenic inflammatory bowel disease


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • GRID V2.0
    Phenotypes
    • Immunodeficiency 43,241600
    • Immunodeficiency by defective expression of HLA class 1
    • Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c
    • Immunodeficiencies affecting cellular and humoral immunity