SAT1

spermidine/spermine N1-acetyltransferase 1
OMIM: 313020, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red SAT1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.109
Latest signed off version: v9.91 (12 Aug 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature