IL2RG

interleukin 2 receptor subunit gamma
OMIM: 308380, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green IL2RG in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42

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 Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.9

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • X-linked Severe Combined Immunodeficiency
Green IL2RG in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74

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 1.141

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


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

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 Severe Paediatric Disorders


Version 1.182

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined immunodeficiency, X-linked, moderate, 312863
  • Severe combined immunodeficiency, X-linked, 300400
Green IL2RG in SCID with features of gamma chain deficiency


Version 1.1
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