PanelApp
  1. Genes and Genomic Entities
  2. B2M

B2M

beta-2-microglobulin
OMIM: 109700, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green B2M in Mendeliome


Version 1.3513

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 43 MIM# 241600
  • Sinopulmonary infections
  • Purple-red skin lesions
  • Decreased serum IgG
  • Decreased B cells
  • Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c
  • MONDO:0009434
  • Amyloidosis, familial visceral, MIM# 105200

Green B2M in Amyloidosis


Version 1.1

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • variant ABeta2M amyloidosis MONDO:0017810

    Green B2M in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 43 MIM# 241600
    • Sinopulmonary infections
    • Purple-red skin lesions
    • Decreased serum IgG
    • Decreased B cells
    • Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c
    • MONDO:0009434