Genomics England
GMS Panels
Panels
Genes and Entities

B2M

beta-2-microglobulin
OMIM: 109700
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
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