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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-03-2021
Symbol POF12
Location 10q26.3
Name premature ovarian failure 12
Corresponding gene SYCE1
Main clinical features
  • primary amenorrhea with elevated serum gonadotropins and low estradiol
  • phenotypic spectrum ranges from absence of pubertal maturation to early menopause
  • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease
    Remark(s) . nonsense homozygous mutation (c.613C>T) in SYCE1 was identified (PMID: 25062452))