Autoinflammatory Disorders
Gene: SAT1EnsemblGeneIds (GRCh38): ENSG00000130066
EnsemblGeneIds (GRCh37): ENSG00000130066
OMIM: 313020, Gene2Phenotype
SAT1 is in 2 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
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
- PMID: 35977808
Variants in this GENE are reported as part of current diagnostic practice
Ee Ming Wong (Victorian Clinical Genetics Services)
- 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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Systemic lupus erythematosus, MONDO:0007915, SAT1-related
- OMIM
- 313020
- Clinvar variants
- Variants in SAT1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sat1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sat1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sat1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sat1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ee Ming Wong (Victorian Clinical Genetics Services)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