Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SIRT1
As reviewed by Hannah Knight, PMID:23473037 reported the identification of a missense SIRT1 variant (p.Leu107Pro) in five members of a single family and all five of them had autoimmune disorder, four had type I diabetes and one had ulcerative colitis.
This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 14 Feb 2024, 8:31 p.m. | Last Modified: 14 Feb 2024, 8:31 p.m.
Panel Version: 4.185
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autoimmune disease, MONDO:0007179
Publications
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: LiteratureCreated: 13 Feb 2024, 11:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Type 1 diabetes; autoimmune disease
Publications
Phenotypes for gene: SIRT1 were changed from Type 1 diabetes; autoimmune disease to autoimmune disease, MONDO:0007179
Publications for gene: SIRT1 were set to PMID: 23473037
Gene: sirt1 has been classified as Red List (Low Evidence).
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