Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Infertility and Recurrent Pregnancy Loss v0.27 GDF9 Zornitza Stark Marked gene: GDF9 as ready
Infertility and Recurrent Pregnancy Loss v0.27 GDF9 Zornitza Stark Gene: gdf9 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.27 GDF9 Zornitza Stark Classified gene: GDF9 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.27 GDF9 Zornitza Stark Gene: gdf9 has been classified as Green List (High Evidence).
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