Table 2:

Genes associated with different forms of female infertility.

Phenotype(s)	HPO-ID	Associated genes (Mode of inheritance)
Premature/primary ovarian insufficiency (POI)	HP:0008209	Proposed POI gene panel [26] BMP15 (XLD, XLR), FANCM (AR), FMR1 (XLD), FOXL2 (AD, AR), FSHR (AR), GDF9 (AR), HFM1 (AR), MCM8 (AR), MCM9 (AR), MRPS22 (AR), NHEJ1 (AD), NOBOX (AD, AR), NR5A1 (AD), PSMC3IP (AR), SOHLH1 (AR), STAG3 (AR)
Congenital adrenal hypoplasia (CAH)	HP:0008244	CYP21A2 (AR) – CYP11B1 (AR), CYP17A1 (AR), HSD3B2 (AR), STAR (AR)
Hypogonadotrophic hypogonadism	HP:0000044	Proposed Congenital Hypogonadotrophic Hypogonadism (CHH) panel [3, 30] ANOS1 (XL), CHD7 (AD, AR, olig), DMXL2 (AD), DUSP6 (olig), FGF8 (olig), FGF17 (olig), FGFR1 (AD, AR, olig), FLRT3 (olig), GNRH1 (AR, olig), GNRHR (AR, olig), HESX1 (AD, AR), IL17RD (olig), KISS1 (AR), KISS1R (AR), KLB (AD), NSMF (AR, olig), PNPLA6 (AR), POLR3A (AR), POLR3B (AR), PROK2 (AD, AR, olig), PROKR2 (AD, AR, olig), SEMA3A (AD, olig), SEMA7A (olig), SOX2 (AR), SOX10 (AD), SPRY4 (olig), TAC3 (AR), TACR3 (AR, olig)
Oocyte maturation arrest, fertilisation failure, zygotic cleavage defect/failure, early embryonic arrest, hydatidiform moles, recurrent pregnancy loss, multi-locus imprinting disorder	HP:0034914, not available, HP:0033336, HP:0033335, HP:0032192, HP:0200067, not available	Proposed Maternal effect genes (MEGs)* [12] BTG4 (AR), CDC20 (AR), KHDC3L (AD, AR), NLRP2 (AD, AR), NLRP5 (AD, AR), NLRP7 (AD, AR), PADI6 (AD, AR), PATL2 (AR), TLE6 (AR), TRIP13 (AR), TUBB8 (AD, AR)

*Variants in MEGs can cause any, some, or all of the mentioned phenotypes.

Abbreviations: AD: autosomal dominant, AR: autosomal recessive, XL: X-linked, YL: Y-linked, XLD: X-linked dominant, XLR: X-linked recessive, olig: oligogenic