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Table 3 The list of POI genes included in the panel

From: Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

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

/

  1. a AD Autosomal dominant inheritance, AR Autosomal recessive inheritance, XLD X-linked dominant inheritance