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| Mendeliome v1.2735 | ASTL |
Zornitza Stark edited their review of gene: ASTL: Added comment: New papers (biallelic variants) i) PMID: 37640117 - Novel compound heterozygous missense variants (p.Arg117Cys and p.Arg274Trp) in a Chinese woman with primary infertility and polyspermy in IVF. Moreover, transfection studies using CHO-K1 cells indicated that mutant cells showed abnormal ovastacin zymogen activation or decreased enzyme stability. ii) PMID: 37133443- Biallelic variants in four independent affected individuals with primary infertility. The frameshift variants significantly decreased the quantity of ASTL protein in vitro. And all missense variants affected the enzymatic activity that cleaves ZP2 in mouse egg in vitro. Three knock-in female mice (corresponding to three missense variants in patients) all show subfertility due to low embryo developmental potential.; Changed publications: 34704130, 37640117, 37133443; Changed phenotypes: Oocyte maturation defect 11, MIM# 619643 |
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| Mendeliome v0.5614 | ZP2 | Zornitza Stark Phenotypes for gene: ZP2 were changed from Female infertility to Oocyte maturation defect 6, MIM# 618353; Female infertility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5613 | ZP2 | Zornitza Stark edited their review of gene: ZP2: Changed phenotypes: Oocyte maturation defect 6, MIM# 618353, Female infertility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2552 | ZP2 | Zornitza Stark Marked gene: ZP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2552 | ZP2 | Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2552 | ZP2 | Zornitza Stark Classified gene: ZP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2552 | ZP2 | Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2551 | ZP2 |
Zornitza Stark gene: ZP2 was added gene: ZP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZP2 were set to 30810869; 29895852 Phenotypes for gene: ZP2 were set to Female infertility Review for gene: ZP2 was set to GREEN Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida. Sources: Literature |
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