IL2RG

interleukin 2 receptor subunit gamma
OMIM: 308380, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green IL2RG in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Severe combined immunodeficiency, X-linked 300400 Tags gene-therapy-trial
Green IL2RG in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Inflammatory Bowel Disease (Very Early Onset)
Green IL2RG in COVID-19 research Level 2: Viral research Version 1.146	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 SCID v1.6 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Phenotypes Severe combined immunodeficiency, X-linked Combined immunodeficiency, X-linked, moderate Severe Combined Immune Deficiency Atypical Severe Combined Immunodeficiency (Atypical SCID) Immunodeficiencies affecting cellular and humoral immunity SCID Severe combined immunodeficiency, X-linked, 300400 T-B+ SCID SCID (x-linked) Omenn syndrome Severe combined immunodeficiency (SCID) Low NK
Green IL2RG in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 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 Tags gene-therapy-trial
Green IL2RG in SCID with features of gamma chain deficiency Level 2: Immunology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes Severe combined immunodeficiency, X-linked, OMIM:300400 Combined immunodeficiency, X-linked, moderate, OMIM:312863 T-B+ severe combined immunodeficiency due to gamma chain deficiency, MONDO:0010315 combined immunodeficiency, X-linked, MONDO:0010730