Severe Combined Immunodeficiency (absent T present B cells)

Gene: IL2RG

Green List (high evidence)

IL2RG (interleukin 2 receptor subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000147168
EnsemblGeneIds (GRCh37): ENSG00000147168
OMIM: 308380, Gene2Phenotype
IL2RG is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 8:38 a.m. | Last Modified: 3 Aug 2021, 8:38 a.m.
Panel Version: 0.25

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

3 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il2rg has been classified as Green List (High Evidence).

3 Aug 2021, Gel status: 3

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

3 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL2RG were set to

3 Aug 2021, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_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