Combined Immunodeficiency
Gene: IL2RGEnsemblGeneIds (GRCh38): ENSG00000147168
EnsemblGeneIds (GRCh37): ENSG00000147168
OMIM: 308380, Gene2Phenotype
IL2RG is in 10 panels
1 review
Danielle Ariti (University of Melbourne)
Well-established gene-disease association; over 30 unrelated individuals reported IL2RG variants and XSCID phenotype; 7 unrelated individuals reported IL2RG variants and XCID phenotype. Three mouse models
PMID: 9058718 (1997), 87 cases of unrelated XSCID-affected males with 62 different mutations spanning all eight IL2RG exons were reported.
Most commonly presented with recurrent infections (severity varies), diarrhoea, failure to thrive, and decreased T/NK cells.Created: 3 Aug 2021, 1 a.m. | Last Modified: 3 Aug 2021, 1 a.m.
Panel Version: 0.251
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined immunodeficiency, X-linked, moderate MIM# 312863; Severe combined immunodeficiency, X-linked MIM# 300400; recurrent viral/fungal/bacterial infections; Low T/NK cells; Low Ig levels; lymphocytopaenia; hypogammaglobulinaemia; failure to thrive; diarrhoea; Pneumonia; Thymic hypoplasia
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Combined immunodeficiency, X-linked, moderate MIM# 312863
- Severe combined immunodeficiency, X-linked MIM# 300400
- recurrent viral/fungal/bacterial infections
- Low T/NK cells
- Low Ig levels
- lymphocytopaenia
- hypogammaglobulinaemia
- failure to thrive
- diarrhoea
- Pneumonia
- Thymic hypoplasia
- OMIM
- 308380
- Clinvar variants
- Variants in IL2RG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il2rg has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IL2RG were changed from to Combined immunodeficiency, X-linked, moderate MIM# 312863; Severe combined immunodeficiency, X-linked MIM# 300400; recurrent viral/fungal/bacterial infections; Low T/NK cells; Low Ig levels; lymphocytopaenia; hypogammaglobulinaemia; failure to thrive; diarrhoea; Pneumonia; Thymic hypoplasia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IL2RG were set to 20301584; 8462096; 8401490; 7883965; 9399950
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IL2RG were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: IL2RG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IL2RG was added gene: IL2RG was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL2RG was set to Unknown