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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 v0.61 | ZP1 | Zornitza Stark Marked gene: ZP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.61 | ZP1 | Zornitza Stark Gene: zp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.61 | ZP1 | Zornitza Stark Classified gene: ZP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.61 | ZP1 | Zornitza Stark Gene: zp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.17 | ZP1 |
Jasmine Chew gene: ZP1 was added gene: ZP1 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ZP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZP1 were set to 24670168; 30810869; 36385415; 39380244; 36529558 Phenotypes for gene: ZP1 were set to Oocyte/zygote/embryo maturation arrest 1, MIM# 615774 Review for gene: ZP1 was set to GREEN Added comment: Literature in OMIM (PMID: 24670168;30810869)- familial cases with homozygous missense/frameshift variant in affected women with primary infertility due to oocyte maturation defect; supported by functional evidence. New papers: i) PMID: 36385415- homozygous nonsense variant p.Gln210Ter in a case with primary infertility (C19) ii) PMID: 39380244;36529558- homozygous missense variants in the same AA position (p.Arg366Trp and p.Arg366Gln) in unrelated females with with empty follicle syndrome; supported by functional evidence Sources: Literature |
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