| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3325 | SPDYC | Zornitza Stark Marked gene: SPDYC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3325 | SPDYC | Zornitza Stark Gene: spdyc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3324 | SPDYC | Chirag Patel Classified gene: SPDYC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3324 | SPDYC | Chirag Patel Gene: spdyc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3323 | SPDYC |
Chirag Patel gene: SPDYC was added gene: SPDYC was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPDYC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPDYC were set to 41005306 Phenotypes for gene: SPDYC were set to Primary ovarian failure, MONDO:0005387 Review for gene: SPDYC was set to GREEN Added comment: 4 unrelated female patients with primary infertility caused by oocyte/embryo defects, from a large cohort of 3,627 patients. WES identified rare biallelic variants in SPDYC gene (p.R52Vfs∗50, p.R188C, p.P287H). Overexpression of mutant SPDYC mRNA in mouse oocytes caused disruption of the ability of the protein to overcome milrinone-mediated inhibition of meiotic resumption with two of the variants (p.R52Vfs∗50 and p.R188C). SPDYC is involved in crucial processes involving cyclin-dependent kinases during the phase transition of the mitotic cell cycle. Sources: Literature |
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