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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CBLB Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CBLB.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CBLB Sarah Leigh reviewed gene: CBLB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 CBLB Achchuthan Shanmugasundram Source NHS GMS was added to CBLB.
Source Expert Review Green was added to CBLB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.159 CBLB Achchuthan Shanmugasundram Phenotypes for gene: CBLB were changed from immunedysregulation; autoimmunity; hypothyroidism; diabetes mellitus type I; vitiligo; urticaria; HLH; ITP; autoimmune hemolytic anemia to Autoimmune disease, multisystem, infantile-onset, 3, OMIM:620430
Primary immunodeficiency or monogenic inflammatory bowel disease v4.158 CBLB Achchuthan Shanmugasundram Classified gene: CBLB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.158 CBLB Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer and reported in PMID:36006710, there are three unrelated cases and functional evidence are available for the association of biallelic CBLB variants with infantile-onset autoimmune disease (MIM #620430). Hence, this gene should be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.158 CBLB Achchuthan Shanmugasundram Gene: cblb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.157 CBLB Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CBLB.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.157 CBLB Achchuthan Shanmugasundram reviewed gene: CBLB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36006710; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 3, OMIM:620430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.57 CBLB Boaz Palterer gene: CBLB was added
gene: CBLB was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBLB were set to 36006710
Phenotypes for gene: CBLB were set to immunedysregulation; autoimmunity; hypothyroidism; diabetes mellitus type I; vitiligo; urticaria; HLH; ITP; autoimmune hemolytic anemia
Penetrance for gene: CBLB were set to unknown
Review for gene: CBLB was set to RED
Added comment: Janssen et al. described 3 unrelated children with early-onset autoimmunity with homozygous CBLB variants. Patient T cells exhibited hyperproliferation in response to anti-CD3 cross-linking.

Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient’s p.H285L mutation, had T and B cell hyperproliferation in response to antigen receptor cross-linking. CblbH257L mice had increased percentages of T regulatory cells (Tregs) that had normal in vitro suppressive function.
Sources: Literature