Table 4. List of novel genes or mode of inheritance in primary ovarian insufficiency patients supported by animal model findings.

Patient ID	Gene	Genotype	Variant annotation	Supported by animal model findings	Inheritance or genotype previously identified	References
POI-1	BMP8B	Heterozygous	c.1024A>G:p.M342V	Reduced number of PGCs	-	[11]
POI-36	BMP8B	Heterozygous	c.778C>T:p.R260C	Reduced number of PGCs	-	[11]
POI-5	INSL3	Homozygous	c.52G>A:p.V18M	Disruption of female cycle and reduced number of litters	-	[16]
POI-12	GATA4	Heterozygous	c.280G>A:p.A94T	Regulation of ovarian steroidogenesis	-	[23]
POI-45	GATA4	Heterozygous	c.1220C>G:p.P407R	Regulation of ovarian steroidogenesis	-	[23]
POI-16	GDF93	Homozygous	c.783delC:p.S262Hfs*2	Block in follicular development leading to complete infertility	Heterozygous/Missense	[2,4,46]
POI-17	UBR2	Heterozygous	c.4843T>A:p.S1615T	Reduced fertility	-	[25]
POI-30	ERCC2	Heterozygous	c.1606G>A:p.V536M	No signs of estrus cycle, small ovaries, and no preovulatory follicles	-	[43]
POI-31	DAZL	Heterozygous	c.640C>T:p.Q214*	Subfertility	Missense	[31,32]
POI-37	PRDM1	Heterozygous	c.1250C>G:p.P417R	Arterial pole defects, reduced and failed migration and proliferation of PGCs	-	[33,34]
POI-44	FANCL	Homozygous and Heterozygous	c.1111_1114dup:p.T372Nfs*13	Reduced fertility and defective of germ cells	-	[42]
POI-44	HELQ	Heterozygous	c.3095delA:p.Y1032Sfs*4	Subfertility and germ cell attrition	-	[45]