Autoinflammatory Disorders
Gene: SAT1
Sufficient evidenceCreated: 25 Oct 2023, 10:34 p.m. | Last Modified: 25 Oct 2023, 10:34 p.m.
Panel Version: 1.16
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
PMID: 35977808
Publications
Variants in this GENE are reported as part of current diagnostic practice
- Two SAT1 loss of function variants reported in four SLE males across two American-African families, inherited from their unaffected mothers
- Using a minigene assay, the p.(Asp40Tyr) variant was shown to result in aberrant splicing
- Hemizygous knock-in male mice and homozygous female mice carrying the p.(Glu92Leufs*6) variant spontaneously developed lupus-like autoimmune disease, including splenomegaly, glomerular infiltration of leukocytes, proteinuria and elevated type I interferon scores
Sources: LiteratureCreated: 1 Sep 2022, 7:26 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Systemic lupus erythematosus, MONDO:0007915, SAT1-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: sat1 has been classified as Green List (High Evidence).
Gene: sat1 has been classified as Amber List (Moderate Evidence).
Gene: sat1 has been classified as Amber List (Moderate Evidence).
Gene: sat1 has been classified as Amber List (Moderate Evidence).
gene: SAT1 was added gene: SAT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: SAT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SAT1 were set to 25977808 Phenotypes for gene: SAT1 were set to Systemic lupus erythematosus, MONDO:0007915, SAT1-related Penetrance for gene: SAT1 were set to unknown Review for gene: SAT1 was set to AMBER gene: SAT1 was marked as current diagnostic