Classification | Genes | Gene OMIM number | Mode of inheritancea | OMIM phenotype |
---|---|---|---|---|
Ligands and receptors associated genes | AMH | 600,957 | AD | Persistent Mullerian duct syndrome type I |
AMHR2 | 600,956 | AD | Persistent Mullerian duct syndrome type II | |
BMP15 | 300,247 | XLD | Ovarian dysgenesis 2; Premature ovarian failure 4 | |
BMPR2 | 600,799 | AR/AD | Pulmonary hypertension 1; Pulmonary venoocclusive disease 1 | |
FSHR | 136,435 | AR/AD | Ovarian dysgenesis 1; Ovarian hyperstimulation syndrome; Ovarian response to FSH stimulation | |
GDF9 | 601,918 | AR | Premature ovarian failure 4 | |
PGRMC1 | 300,435 | XLD | / | |
KHDRBS1 | 602,489 | AD | / | |
Meiosis genes | ERCC6-PGBD3 | 609,413 | AD | Premature ovarian failure 11 |
HFM1 | 615,684 | AR | Premature ovarian failure 9 | |
MSH4 | 602,105 | AR | / | |
MSH5 | 603,382 | AR | Premature ovarian failure 13 | |
SPIDR | 615,384 | AR | / | |
SMC1B | 608,685 | AR/AD | / | |
SYCE1 | 611,486 | AR | Premature ovarian failure 12; Spermatogenic failure 15 | |
STAG3 | 608,489 | AR | Premature ovarian failure 8 | |
MCM8 | 608,187 | AR | Premature ovarian failure 10 | |
MCM9 | 610,098 | AR | Ovarian dysgenesis 4 | |
NUP107 | 607,617 | AR | Ovarian dysgenesis 6 | |
Transcription factors | FIGLA | 608,697 | AD | Premature ovarian failure 6 |
FOXL2 | 605,597 | AD | Blepharophimosis, epicanthus inversus, and ptosis; Premature ovarian failure 3 | |
NOBOX | 610,934 | AD | Premature ovarian failure 5 | |
NR5A1 | 184,757 | AD | Premature ovarian failure 7 | |
POLR2C | 180,663 | AD | / | |
SOHLH1 | 610,224 | AR/AD | Ovarian dysgenesis 5 | |
WT1 | 607,102 | AD | Denys-Drash syndrome; Frasier syndrome | |
NANOS3 | 608,229 | AR | / | |
LHX8 | 604,425 | AR/AD | / |