Autoinflammatory Disorders
Gene: SIRT1
SIRT1 (sirtuin 1)
EnsemblGeneIds (GRCh38): ENSG00000096717
EnsemblGeneIds (GRCh37): ENSG00000096717
OMIM: 604479, Gene2Phenotype
SIRT1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000096717
EnsemblGeneIds (GRCh37): ENSG00000096717
OMIM: 604479, Gene2Phenotype
SIRT1 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: LiteratureCreated: 15 Feb 2024, 2:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autoimmune disease, MONDO:0007179, SIRT1-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- autoimmune disease, MONDO:0007179, SIRT1-related
- OMIM
- 604479
- Clinvar variants
- Variants in SIRT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
15 Feb 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sirt1 has been classified as Red List (Low Evidence).
15 Feb 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SIRT1 was added gene: SIRT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIRT1 were set to 23473037 Phenotypes for gene: SIRT1 were set to autoimmune disease, MONDO:0007179, SIRT1-related Review for gene: SIRT1 was set to RED