| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Infertility and Recurrent Pregnancy Loss v0.93 | FIGLA | Zornitza Stark Marked gene: FIGLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.93 | FIGLA | Zornitza Stark Gene: figla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.93 | FIGLA | Zornitza Stark Classified gene: FIGLA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.93 | FIGLA | Zornitza Stark Gene: figla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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