Table 1b: Male gene panel information.
Detection item |
Detection gene |
Genes related to congenital absence of vas deferens (2) |
CFTR, ADGRG2 |
Spermatogenesis disorder related genes (38) |
KLHL10, CATSPER1, NANOS1, SLC26A8, NR5A1, SYCE1, SYCP3, TAF4B, TEX11, USP9Y, SEPTIN12, TEX15, CEP19, CFAP43, CFAP44, BRDT, AK7, CFAP69, TSGA10, PLCZ1, MEIOB, TEX14, NOS3, H2BFWT, RHOXF1, RHOXF2, RHOXF2B, OGG1, XRCC1, TRICH9, QRICH2, ZMYND15, PMFBP1, FSIP2, FANCM, SPINK2, WDR66, SRY |
Y chromosome microdeletion (1) |
AZF |
Non-syndromic polymorphism abnormal of sperm flagella (1) |
DNAH1 |
Headless sperm (1) |
SUN5 |
Genes related to roundhead spermatozoa (3) |
AURKC, DPY19L2, SPATA16 |
Genes related to primary ciliary dyskinesia (36) |
LRRC6, DNAI2, RSPH1, DNAAF2, CCDC114, ZMYND10, ARMC4, CCDC151, CCDC103, SPAG1, DNAAF1, RSPH4A, DNAH5, DNAI1, CCDC40, CCDC39, DNAH11, CCNO, DNAAF3, DNAAF4, DNAJB13, DNAL1, DRC1, GAS8, CFAP298, CCDC65, RSPH3, RSPH9, TTC25, PIH1D3, NME8, HYDIN, DNAH9, DNAAF5, CFAP300, LRRC56 |
Cryptorchidism-related genes (1) |
INSL3 |
Genes related to androgen insensitivity syndrome (1) |
AR |
Genes related to idiopathic hypogonadotropic hypogonadism (33) |
TACR3, TAC3, WDR11, KISS1, KISS1R, SPRY4, IL17RD, FEZF1, FGF17, FLRT3, GNRH1, GNRHR, DUSP6, LHB, FGFR1, PROKR2, FGF8, PROK2, CHD7, ANOS1, LHCGR, POR, HS6ST1, SEMA3A, NSMF, NR0B1, PNPLA6, SMCHD1, POLR3B, POLR3A, RNF216, SOX2, SOX10 |