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Primary immunodeficiency or monogenic inflammatory bowel disease v9.89 GPR15 Achchuthan Shanmugasundram Classified gene: GPR15 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.89 GPR15 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families reported with GPR15 variants and with early-onset inflammatory bowel disease. Patients were reported with both biallelic and monoallelic inheritance in at least two families each - biallelic in families 1-3 and monoallelic carriers in families 2 and 4. However, the phenotype is milder in monoallelic carriers. There is also functional evidence available from both homozygous and heterozygous varaiants and from GPR15 knockout model.

Hence, this gene should be promoted to green rating with 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' MOI in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.89 GPR15 Achchuthan Shanmugasundram Gene: gpr15 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.88 GPR15 Achchuthan Shanmugasundram Phenotypes for gene: GPR15 were changed from Inflammatory bowel disease; IBD; VEOIBD to inflammatory bowel disease, MONDO:0005265
Primary immunodeficiency or monogenic inflammatory bowel disease v9.87 GPR15 Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: GPR15.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.87 GPR15 Achchuthan Shanmugasundram reviewed gene: GPR15: Rating: GREEN; Mode of pathogenicity: None; Publications: 42259915; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v9.23 GPR15 Boaz Palterer gene: GPR15 was added
gene: GPR15 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: GPR15 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GPR15 were set to 42259915
Phenotypes for gene: GPR15 were set to Inflammatory bowel disease; IBD; VEOIBD
Penetrance for gene: GPR15 were set to Incomplete
Review for gene: GPR15 was set to RED
Added comment: Cui et al. described multiple patients from multiple kindreds, harboring homozygous or compound heterozygous mutations in the GPR15 gene. They presented with severe early-onset inflammatory bowel disease. The underlying mechanism and phenotype were validated in vivo using complete Gpr15 knockout (KO) mouse models, demonstrating impaired colonic homing of regulatory CD8+ TIGR cells, an accumulation of inflammatory macrophages, and increased susceptibility to colitis.
Sources: Literature