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BabyScreen+ newborn screening

Gene: IL2RB

Green List (high evidence)
IL2RB (interleukin 2 receptor subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000100385
EnsemblGeneIds (GRCh37): ENSG00000100385
OMIM: 146710, Gene2Phenotype
IL2RB is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported.

Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; bone marrow transplantation is curative.
Created: 8 Dec 2022, 11:44 p.m. | Last Modified: 8 Dec 2022, 11:44 p.m.
Panel Version: 0.1259

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495

Created: 8 Dec 2022, 11:44 p.m.
Last Modified: 8 Dec 2022, 11:44 p.m.
Panel version: 0.1259

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495
Tags
treatable immunological
OMIM
146710
Clinvar variants
Variants in IL2RB
Penetrance
None
Panels with this gene

History Filter Activity

8 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il2rb has been classified as Green List (High Evidence).

8 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: IL2RB. Tag immunological tag was added to gene: IL2RB.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL2RB was added gene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495