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Newborns main panel

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50091/
Created: 26 Sep 2024, 12:49 p.m. | Last Modified: 26 Sep 2024, 12:49 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 12:49 p.m.
Last Modified: 26 Sep 2024, 12:49 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
IL2RG curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team. Mafalda Gomes comment: Females who inherit the pathogenic variant will be carriers and will be clinically asymptomatic secondary to skewed X-chromosome inactivation.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

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

Phenotypes
SCID X-Linked

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • SCID X-Linked
Tags
special_consideration
OMIM
308380
Clinvar variants
Variants in IL2RG
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: IL2RG.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes SCID X-Linked for gene: IL2RG

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes SCID X-Linked for gene: IL2RG

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes SCID X-Linked for gene: IL2RG

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IL2RG. Added phenotypes SCID X-Linked for gene: IL2RG Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to IL2RG. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes SCID X-Linked for gene: IL2RG

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IL2RG was added gene: IL2RG was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females