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. 2019 Sep 30;90(Suppl 10):68–74. doi: 10.23750/abm.v90i10-S.8763

Table 2.

Genes associated with oocyte maturation defect and preimplantation embryonic lethality

Gene Inheritance OMIM gene ID OMIM phenotype OMIM phenotype ID Clinical Features
ZP3 AD 182889 OOMD3 617712 Oocyte degeneration, absence of zona pellucida
TUBB8 AD, AR 616768 OOMD2 616780 Oocyte arrest at metaphase I or II; abnormal spindle
ZP1 AR 195000 OOMD1 615774 Absence of zona pellucida
PATL2 AR 614661 OOMD4 617743 Oocyte maturation arrest in germinal vesicle stage, metaphase I or polar body 1 stage; abnormal polar body 1; early embryonic arrest
ZP2 AR 182888 OOMD6 618353 Abnormal of zona pellucida
TLE6 AR 612399 PREMBL1 616814 Failure of zygote formation
PADI6 AR 610363 PREMBL2 617234 Recurrent early embryonic arrest

OOMD=oocyte maturation defect; PREMBL=preimplantation embryonic lethality.