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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova Tag for-review was removed from gene: IL2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 IL2RB Arina Puzriakova commented on gene: IL2RB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 IL2RB Arina Puzriakova Source Expert Review Green was added to IL2RB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 IL2RB Arina Puzriakova Classified gene: IL2RB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 IL2RB Arina Puzriakova Added comment: 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).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.339 IL2RB Arina Puzriakova Gene: il2rb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 IL2RB Arina Puzriakova Tag for-review tag was added to gene: IL2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.162 IL2RB Sarah Leigh Classified gene: IL2RB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.162 IL2RB Sarah Leigh Added comment: 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).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.162 IL2RB Sarah Leigh Gene: il2rb has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 IL2RB Zornitza Stark reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31040184, 31040185; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495, Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 IL2RB Louise Daugherty reviewed gene: IL2RB: Rating: AMBER; Mode of pathogenicity: ; Publications: 31040184, 31040185; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 IL2RB Louise Daugherty Publications for gene IL2RB were updated from 32086639; 32048120 to 32086639; 31040185; 32048120; 31040184
Primary immunodeficiency or monogenic inflammatory bowel disease v2.21 IL2RB Louise Daugherty Publications for gene: IL2RB were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.20 IL2RB Louise Daugherty 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.19 IL2RB Louise Daugherty Mode of inheritance for gene: IL2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 IL2RB Louise Daugherty 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