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| Mendeliome v1.2751 | CHEK1 | Zornitza Stark Marked gene: CHEK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2751 | CHEK1 | Zornitza Stark Gene: chek1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2751 | CHEK1 | Zornitza Stark Classified gene: CHEK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2751 | CHEK1 | Zornitza Stark Gene: chek1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2750 | CHEK1 |
Zornitza Stark gene: CHEK1 was added gene: CHEK1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: CHEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHEK1 were set to 33953335; 33948904 Phenotypes for gene: CHEK1 were set to Oocyte/zygote/embryo maturation arrest 21, MIM# 620610 Review for gene: CHEK1 was set to GREEN Added comment: Literature in OMIM- PMID: 33953335; 33948904 - >3 unrelated with infertility due to zygote/embryo cleavage arrest with three different missense variants and 1 1bp deletion. Functional studies using transfection studies showed that all mutant increased cytoplasmic localization significantly greater kinase activity. Injection of all mutant cRNA into mouse zygotes with 2 distinct pronuclei also resulted in significantly decreased cleavage rates compared to wildtype. Sources: Expert list |
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