Genomics England
GMS Panels
Panels
Genes and Entities

IL2RG

interleukin 2 receptor subunit gamma
OMIM: 308380
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined immunodeficiency, X-linked, moderate, Severe combined immunodeficiency, X-linked, Severe combined immunodeficiency, X-linked, 300400, Severe Combined Immune Deficiency, T-B+ SCID, SCID, SCID (x-linked), Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID), Low NK, Immunodeficiencies affecting cellular and humoral immunity
Green
in SCID with features of gamma chain deficiency
R-numbers: R235
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes