Mutant gene

Mutation frequency

Related diseases

Genetic model

ZP2

4

Oocyte maturation defect

AR

TUBB8

2

Oocyte maturation defect

AD/AR

WEE2

2

Oocyte maturation defect

AR

ZP3

1

Oocyte maturation defect

AD

PANX1

1

Oocyte maturation defect type 7

AD

IL17RD

3

Hypogonadotropic hypogonadism

AD/AR

PROKR2

2

Hypogonadotropic hypogonadism

AD

KAL1

2

Hypogonadotropic hypogonadism

XLR

SPRY4

1

Hypogonadotropic hypogonadism

AD

GNRHR

1

Hypogonadotropic hypogonadism

AR

HS6ST1

1

Hypogonadotropic hypogonadism type 15 with or without anosmia

AD

GDF9

4

Premature ovarian failure

AR

ERCC6

3

Premature ovarian failure

AD

HFM1

1

Premature ovarian failure

AR

EIF2B2

1

Premature ovarian failure

AR

FMR1

1

Premature ovarian failure

XL

DIAPH2

1

Premature ovarian failure

XLD

PSMC3IP

1

Ovarian dysgenesis

AR

MCM9

1

Ovarian dysgenesis

AR

NUP 107

1

Ovarian dysgenesis type 6

AR

POR

2

Cytochrome P450 oxidoreductase deficiency

AR

TLE6

1

Preimplantation embryonic lethality

AR

PADI6

1

Preimplantation embryonic lethality

AR

LHCGR

1

Luteinizing hormone resistance

AR

BMP15

1

Premature ovarian failure 4/Ovarian dysgenesis 2

XL