Genomics England
GMS Panels
Panels
Genes and Entities

IL7R

interleukin 7 receptor
OMIM: 146661
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
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Severe Combined Immune Deficiency, Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive, T-B+ SCID, IL7Ra deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID), Nl NK, Immunodeficiencies affecting cellular and humoral immunity