Table 2.

Genes associated with spermatogenic failure

Gene	Inheritance	OMIM gene	OMIM phenotype	OMIM or HGMD phenotype ID	Spermatogenic defect
NR5A1	AR	184757	SPGF8	613957	AZS/OZS
SYCP3	AD	604759	SPGF4	270960	AZS/OZS
ZMYND15	AR	614312	SPGF14	615842	AZS/OZS
TAF4B	AR	601689	SPGF13	615841	AZS/OZS
TEX11	XLR	300311	SPGFX2	309120	AZS
NANOS1	AD	608226	SPGF12	615413	AZS/OZS/OZS+ASTHZ+TZS
PLK4	AD	605031	/	1556988045	AZS
MEIOB	AR	617670	SPGF22	617706	AZS
SYCE1	AR	611486	SPGF15	616950	AZS
USP9Y	YL	400005	SPGFY2	400042	AZS
SOHLH1	AD	610224	SPGF32	618115	AZS
TEX15	AR	605795	SPGF25	617960	AZS/OZS
HSF2	AD	140581	/	702994563	AZS
KLHL10	AD	608778	SPGF11	615081	OZS; TZS; AZS
AURKC	AR	603495	SPGF5	243060	TZS (macrozoospermia)
DPY19L2	AR	613893	SPGF9	613958	TZS (globozoospermia)
SPATA16	AR	609856	SPGF6	102530	TZS (globozoospermia)
PICK1	AR	605926	/	247048065	TZS (globozoospermia)
BRDT	AR	602144	SPGF21	617644	ASS
SUN5	AR	613942	SPGF16	617187	ASS
SLC26A8	AD	608480	SPGF3	606766	AZS
CATSPER1	AR	606389	SPGF7	612997	AZS
SEPT12	AD	611562	SPGF10	614822	AZS; OZS+ASTHZ+TZS
CFAP43	AR	617558	SPGF19	617592	MMAF
CFAP44	AR	617559	SPGF20	617593	MMAF
DNAH1	AR	603332	SPGF18	617576	MMAF
PLCZ1	AR	608075	SPGF17	617214	OAF

SPGF = spermatogenic failure; OZS = oligozoospermia; AZS = azoospermia; ASTHZ = asthenozoospermia; TZS = teratozoospermia; OZS+ASTHZ+TZS = oligoasthenoteratozoospermia; ASS = acephalic spermatozoa syndrome; MMAF = multiple morphological abnormalities of the flagellum; OAF = oocyte activation failure; AR = autosomal recessive; AD = autosomal dominant; XLR = X-linked recessive; YL = Y-linked; HGMD = Human Gene Mutation Database (https://portal.biobase-international.com/hgmd/pro/)