Autoinflammatory Disorders

Gene: SAT1

Green List (high evidence)

SAT1 (spermidine/spermine N1-acetyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130066
EnsemblGeneIds (GRCh37): ENSG00000130066
OMIM: 313020, Gene2Phenotype
SAT1 is in 2 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sufficient evidence
Created: 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

Ee Ming Wong (Victorian Clinical Genetics Services)

I don't know

- 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: Literature
Created: 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

25 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: sat1 has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sat1 has been classified as Amber List (Moderate Evidence).

1 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sat1 has been classified as Amber List (Moderate Evidence).

1 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sat1 has been classified as Amber List (Moderate Evidence).

1 Sep 2022, Gel status: 0

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