Inflammatory bowel disease
Gene: IL2RBEnsemblGeneIds (GRCh38): ENSG00000100385
EnsemblGeneIds (GRCh37): ENSG00000100385
OMIM: 146710, Gene2Phenotype
IL2RB is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five families reported, mouse model.Created: 24 Mar 2023, 3:25 a.m. | Last Modified: 24 Mar 2023, 3:25 a.m.
Panel Version: 0.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
Aimee Huynh (Queensland Health)
3 homozygous mutations in the IL2RB gene of 8 individuals from 4 consanguineous families that cause disease by distinct mechanisms. Nearly all patients presented with autoantibodies, hypergammaglobulinemia, bowel inflammation, dermatological abnormalities, lymphadenopathy, and CMV disease. 4/5 children had severe diarrhea and infectious/autoimmune enteropathy. Endoscopy of patient B1 showed villous atrophy, and gastrointestinal biopsies revealed chronic inflammatory infiltration of the duodenum and rectum.
Sources: Expert ReviewCreated: 24 Mar 2023, 12:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
immunodeficiency; autoimmune enteropathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
- OMIM
- 146710
- Clinvar variants
- Variants in IL2RB
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il2rb has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IL2RB were changed from immunodeficiency; autoimmune enteropathy to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il2rb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Aimee Huynh (Queensland Health)gene: IL2RB was added gene: IL2RB was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RB were set to 31040184, 31040185 Phenotypes for gene: IL2RB were set to immunodeficiency; autoimmune enteropathy Penetrance for gene: IL2RB were set to unknown Review for gene: IL2RB was set to AMBER gene: IL2RB was marked as current diagnostic