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Primary immunodeficiency or monogenic inflammatory bowel disease v4.188 SIRT1 Achchuthan Shanmugasundram Phenotypes for gene: SIRT1 were changed from Type 1 diabetes; autoimmune disease to autoimmune disease, MONDO:0007179
Primary immunodeficiency or monogenic inflammatory bowel disease v4.187 SIRT1 Achchuthan Shanmugasundram Publications for gene: SIRT1 were set to PMID: 23473037
Primary immunodeficiency or monogenic inflammatory bowel disease v4.186 SIRT1 Achchuthan Shanmugasundram Classified gene: SIRT1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.186 SIRT1 Achchuthan Shanmugasundram Gene: sirt1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.185 SIRT1 Achchuthan Shanmugasundram reviewed gene: SIRT1: Rating: RED; Mode of pathogenicity: None; Publications: 23473037; Phenotypes: autoimmune disease, MONDO:0007179; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 SIRT1 Hannah Knight gene: SIRT1 was added
gene: SIRT1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIRT1 were set to PMID: 23473037
Phenotypes for gene: SIRT1 were set to Type 1 diabetes; autoimmune disease
Review for gene: SIRT1 was set to RED
Added comment: In PMID: 36634696 (2023) as one of the genes associated with monogenic IBD.
Just one previous report of it causing disease?
PMID: 23473037 (2013) - five individuals in one family found to have a missense SIRT1 variant (p.L107P). Four presented with type 1 diabetes, and one with ulcerative colitis
Sources: Literature