RAG2

recombination activating 2
OMIM: 179616
PanelMode of inheritanceDetails
3 panels
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency, B cell-negative, Severe Combined Immune Deficiency, Severe combined immunodeficiency, B cell-negative, 601457, T-B- SCID, T-B+ SCID, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, RAG2 deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID), Nl NK, Immunodeficiencies affecting cellular and humoral immunity
R-numbers: R332
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMENN SYNDROME, Omenn syndrome
R-numbers: R189
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immunodeficiency (CID), Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A), early onset and progressive lung disease