Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SAT1

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

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

4 patients from 2 unrelated families, X-linked c.118G>T (p.Asp40Tyr) and c.272_273dup (p.Glu92Leufs*6), with childhood-onset SLE and lupus nephritis; splice-reporter assay and CRISPR knock-in mouse model confirm loss-of-function. PMID 35977808.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

35977808

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Literature

OMIM

313020

Clinvar variants

Variants in SAT1

Penetrance

None

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SAT1 was added gene: SAT1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SAT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: SAT1