Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL2RBThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:03 p.m. | Last Modified: 20 Oct 2020, 3:03 p.m.
Panel Version: 2.339
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in at least 5 unrelated families (two families with the same variant had shared ethnic heritage PMID 31040185).Created: 7 May 2020, 1:22 p.m. | Last Modified: 7 May 2020, 1:22 p.m.
Panel Version: 2.162
Five families reported.Created: 10 Apr 2020, 8:16 a.m. | Last Modified: 10 Apr 2020, 8:16 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Publications
Tag for-review was removed from gene: IL2RB.
Source Expert Review Green was added to IL2RB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: il2rb has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IL2RB.
Gene: il2rb has been classified as Green List (High Evidence).
Publications for gene IL2RB were updated from 32086639; 32048120 to 32086639; 31040185; 32048120; 31040184
Publications for gene: IL2RB were set to
Phenotypes for gene: IL2RB were changed from to CD122 deficiency; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495
Mode of inheritance for gene: IL2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: IL2RB was added gene: IL2RB was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: IL2RB was set to