SAT1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SAT1 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Systemic lupus erythematosus, MONDO:0007915, SAT1-related
  • Keratosis follicularis spinulosa decalvans

Green SAT1 in Systemic Autoinflammatory Disease_Periodic Fever


Level 2: Immunological disorders
Version 1.47

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Systemic lupus erythematosus, MONDO:0007915, SAT1-related