Table 2.
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.