| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.1261 | CDC23 | Zornitza Stark Marked gene: CDC23 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1261 | CDC23 | Zornitza Stark Gene: cdc23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1260 | CDC23 | Zornitza Stark Classified gene: CDC23 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1260 | CDC23 | Zornitza Stark Gene: cdc23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1251 | CDC23 |
Michelle Torres gene: CDC23 was added gene: CDC23 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CDC23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC23 were set to 37768355 Phenotypes for gene: CDC23 were set to inherited oocyte maturation defect MONDO#0014769, CDC23-related Review for gene: CDC23 was set to GREEN Added comment: Two missense variants, p.(Y329C) and p.(R330C), detected in three unrelated homozygous infertile females characterised by oocyte maturation defects. In vitro studies using HeLa cells showed either decreased protein levels (Y329C) or impaired localisation (R330C). In vivo studies in mice homozygous for Y329C reproduced patient’s phenotype. Sources: Literature |
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