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Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 RELB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RELB.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 RELB Achchuthan Shanmugasundram commented on gene: RELB: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 RELB Achchuthan Shanmugasundram Source NHS GMS was added to RELB.
Source Expert Review Green was added to RELB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 RELB Achchuthan Shanmugasundram Classified gene: RELB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 RELB Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available (four unrelated cases and functional work) for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.9 RELB Achchuthan Shanmugasundram Gene: relb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.8 RELB Achchuthan Shanmugasundram Phenotypes for gene: RELB were changed from Recurrent infections; Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity; Immunodeficiencies affecting cellular and humoral immunity; ?Immunodeficiency 53, 617585 to ?Immunodeficiency 53, OMIM:617585
Primary immunodeficiency or monogenic inflammatory bowel disease v7.7 RELB Achchuthan Shanmugasundram Publications for gene: RELB were set to 26385063; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RELB.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram commented on gene: RELB: PMID:26385063 reported three male patients from a related kindred with primary immunodeficiency and with a homozygous truncating variant in RELB (p.Tyr397Ter). All had recurrent upper and lower respiratory infections, one had ecthyma gangrenosum and developed a polyarticular arthritis with joint swelling, and another had a urinary tract infection.

PMID:36402602 reported three siblings presenting with predominately severe autoimmune manifestations involving the liver, gut, lung, and skin, as well as repeated infections. They were identified with homozygous p.Pro364Leu variant.

PMID:39231201 reported two unrelated adult patients with either homozygous (p.Q72Tfs*152) or compound heterozygous (p.Glu145Lys & p.Pro364Leu) loss-of-function variants. Both of them presented with combined immunodeficiency with early-onset severe bacterial, viral, and fungal diseases.

Functional evidence is also available from all three publications mentioned above.

This gene has been associated with immunodeficiency phenotype in OMIM (MIM #617585).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 RELB Achchuthan Shanmugasundram reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: 26385063, 36402602, 39231201; Phenotypes: ?Immunodeficiency 53, OMIM:617585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 RELB Dmitrijs Rots reviewed gene: RELB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39231201; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RELB Eleanor Williams Source Other was added to RELB.
Publications for gene RELB were updated from 32048120; 26385063; 32086639 to 26385063; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RELB Eleanor Williams reviewed gene: RELB: Rating: ; Mode of pathogenicity: ; Publications: 26385063; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RELB Louise Daugherty Source IUIS Classification December 2019 was added to RELB.
Added phenotypes Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity for gene: RELB
Publications for gene RELB were updated from 26385063 to 32048120; 26385063; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease RELB Louise Daugherty edited their review of gene: RELB
Primary immunodeficiency or monogenic inflammatory bowel disease RELB Louise Daugherty marked gene: RELB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RELB Louise Daugherty commented on gene: RELB
Primary immunodeficiency or monogenic inflammatory bowel disease RELB Sophie Hambleton reviewed gene: RELB
Primary immunodeficiency or monogenic inflammatory bowel disease RELB Louise Daugherty Added gene to panel