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  2. SCID with features of gamma chain deficiency
  3. IL2RG
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SCID with features of gamma chain deficiency

Gene: IL2RG

Green List (high evidence)
IL2RG (interleukin 2 receptor subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000147168
EnsemblGeneIds (GRCh37): ENSG00000147168
OMIM: 308380, Gene2Phenotype
IL2RG is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #300400 & #312863) and the OMIM records were last accessed on 29 December 2025.
Created: 29 Dec 2025, 12:52 p.m. | Last Modified: 29 Dec 2025, 12:52 p.m.
Panel Version: 1.2
IL2RG has been added to the panel for R235 SCID with features of gamma chain deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:35 p.m. | Last Modified: 30 Jun 2023, 3:35 p.m.
Panel Version: 0.1

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Created: 30 Jun 2023, 3:35 p.m.
Last Modified: 30 Jun 2023, 3:35 p.m.
Panel version: 0.1

Details

Mode of Inheritance
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
OMIM
308380
Clinvar variants
Variants in IL2RG
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: IL2RG were changed from to 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

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IL2RG was added gene: IL2RG was added to SCID with features of gamma chain deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females