IL2RG

interleukin 2 receptor subunit gamma
OMIM: 308380, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green IL2RG in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.39

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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • 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 0.7

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 1.73

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 1.130

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


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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 1.127

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