Genomics England
GMS Panels
Panels
Genes and Entities

RAG1

recombination activating 1
OMIM: 179615
PanelMode of inheritanceDetails
3 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
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, RAG1 deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID), Nl NK, Immunodeficiencies affecting cellular and humoral immunity
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMENN SYNDROME, OMIM:603554
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immunodeficiency (CID), Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A), early onset and progressive lung disease