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| Infertility and Recurrent Pregnancy Loss v0.82 | FIGLA |
Jasmine Chew gene: FIGLA was added gene: FIGLA was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: FIGLA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FIGLA were set to 18499083; 29914564; 30474133; 34778283 Phenotypes for gene: FIGLA were set to Premature ovarian failure 6, MIM# 612310 Review for gene: FIGLA was set to GREEN Added comment: Literature in OMIM- PubMed:18499083; 29914564; 30474133 New paper: i) PMID: 34778283- Three different FIGLA heterozygous variants were identified in four patients with POI. Two patients carried the mutation c.11C>A (p.A4E), and the other two patients, respectively, carried the mutations c.625G>A (p.V209I) and c.84C>A (p.D28E). The luciferase reporter assay indicated that ZP1, ZP2, and ZP3 transcriptional activities were significantly reduced in individuals with FIGLA mutations. Chromatin immunoprecipitation indicated that the FIGLA mutation significantly decreased binding with the ZP1, ZP2, and ZP3 promoters. Documented in FeRGI database- strong evidence for POI. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.63 | ASTL |
Jasmine Chew gene: ASTL was added gene: ASTL was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ASTL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTL were set to 34704130; 37640117; 37133443 Phenotypes for gene: ASTL were set to Oocyte/zygote/embryo maturation arrest 11, MIM# 619643 Review for gene: ASTL was set to GREEN Added comment: Literature in OMIM- PMID: 34704130- One Saudi family with 2 sisters with reduced or absent fertility due to oocyte maturation defect carrying a homozygous splice variant. 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. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.62 | ZP2 | Zornitza Stark Marked gene: ZP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.62 | ZP2 | Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.62 | ZP2 | Zornitza Stark Classified gene: ZP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.62 | ZP2 | Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | ZP2 | Jasmine Chew edited their review of gene: ZP2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.17 | ZP2 |
Jasmine Chew gene: ZP2 was added gene: ZP2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZP2 were set to 29895852; 30810869; 39443359; 33604805 Phenotypes for gene: ZP2 were set to Oocyte/zygote/embryo maturation arrest 6, MIM# 618353 Added comment: Literature in OMIM (PMID: 29895852; 30810869)- familial cases with homozygous variants (splice and missense) reported in affected women with defective/absent oocyte zona pellucida, supported by functional evidence New papers- i) PMID: 39443359- novel compound heterozygous variant (c.1924C > T and c.1695-2A > G) in a Chinese Han family with primary female infertility due to oocyte degeneration caused by absent/thin ZP; both variants (c.1924C > T and c.1695-2A > G) resulted in truncated ZP2 proteins (p.R642X and p.C566Hfs*2) that lost the transmembrane domain, which prevented the secretion of the mutant ZP2 proteins and produced a structurally abnormal ZP. ii) PMID: 33604805- novel homozygous frameshift variant (p.Q412Rfs*17) in two infertile sisters in a family with a thin zona pellucida (ZP) phenotype, supported by functional evidence. Sources: Literature |
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