PanelApp (test)
  1. Genes and Genomic Entities
  2. B2M

B2M

beta-2-microglobulin
OMIM: 109700, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green B2M in Mendeliome


Version 1.1902

review 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 Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  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