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GENATLAS PHENOTYPE

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))