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| Infertility and Recurrent Pregnancy Loss v0.25 | GDF9 |
Jasmine Chew gene: GDF9 was added gene: GDF9 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: GDF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF9 were set to 29044499; 33036707; 38643161 Phenotypes for gene: GDF9 were set to Premature ovarian failure 14, MIM# 618014 Review for gene: GDF9 was set to GREEN Added comment: Literature in OMIM- PMID:29044499;33036707 - biallelic variants reported in women with premature ovarian failure, supported by functional evidence New paper: i) PMID: 38643161 (2024)- compound heterozygous variants (Q321X/S428T) in two infertile women with defect in follicle enlargement In vitro experiments confirmed that these variants caused reduction of GDF9 secretion, and/or alleviation in BMP15 binding. Moreover, Q308X/S415T mouse model was constructed, which recapitulated the phenotypes in probands with abnormal estrogen secretion and defected follicle enlargement. n addition, RNA sequencing of granulosa cells revealed the transcriptomic profiles related to defective follicle enlargement in theQ308X/S415T group. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.19 | BMP15 | Zornitza Stark Marked gene: BMP15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.19 | BMP15 | Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.19 | BMP15 | Zornitza Stark Classified gene: BMP15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.19 | BMP15 | Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.17 | BMP15 |
Jasmine Chew gene: BMP15 was added gene: BMP15 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: BMP15 was set to Other Publications for gene: BMP15 were set to 15136966; 16508750; 16464940; 19263482; 39850788; 35861920 Phenotypes for gene: BMP15 were set to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510 Review for gene: BMP15 was set to GREEN Added comment: Literature in OMIM (PMID: 15136966;16508750;16464940;19263482)- multiple affected females carrying monoallelic variants with POI+/- ovarian dysgenesis. New papers reporting on biallelic variants in affected females: i) PMID: 39850788- novel homozygous variant (p.C320Y) in 2 Palestinian sisters born to consanguineous parents with ovarian dysgenesis and primary amenorrhea; in-vitro assay also showed decreased in BMP signaling in cells expressing the homozygous BMP15 mutant when compared to the WT control. ii) PMID: 35861920- novel compound heterozygous variant (p. R264Q and p. P359L) in two siblings with POI. Both missense variants reduced the level of the BMP15 protein and impaired the function of BMP15 in promoting granulosa cell proliferation in vitro. Sources: Literature |
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