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| Mendeliome v1.2946 | DLGAP5 | Zornitza Stark Marked gene: DLGAP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2946 | DLGAP5 | Zornitza Stark Gene: dlgap5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2946 | DLGAP5 | Zornitza Stark Classified gene: DLGAP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2946 | DLGAP5 | Zornitza Stark Gene: dlgap5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2945 | DLGAP5 |
Zornitza Stark gene: DLGAP5 was added gene: DLGAP5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DLGAP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLGAP5 were set to 40796344 Phenotypes for gene: DLGAP5 were set to Infertility disorder, MONDO:0005047, DLGAP5-related Review for gene: DLGAP5 was set to GREEN Added comment: 3 individuals with biallelic variants identified as part of a large cohort (N=488) of women experiencing recurrent early embryonic arrest. These variants significantly altered protein length, abundance, or localization, resulting in spindle abnormalities in HeLa cells and mouse zygotes. Furthermore, the microinjection of exogenous mutant DLGAP5 mRNA into mouse zygote and the construction of Dlgap5 site-directed mutant mice successfully replicated the patient phenotypes. Functional studies, both in vivo and in vitro, revealed that DLGAP5 deficiency disrupts normal spindle assembly through its interaction with TACC3. Sources: Literature |
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