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| 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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| Mendeliome v1.2776 | TACC3 | Zornitza Stark Marked gene: TACC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2776 | TACC3 | Zornitza Stark Gene: tacc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2776 | TACC3 | Zornitza Stark Classified gene: TACC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2776 | TACC3 | Zornitza Stark Gene: tacc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2775 | TACC3 |
Zornitza Stark gene: TACC3 was added gene: TACC3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: TACC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACC3 were set to 36395215 Phenotypes for gene: TACC3 were set to Female infertility due to oocyte meiotic arrest, MONDO:0044626 Review for gene: TACC3 was set to AMBER Added comment: PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility. Sources: Expert list |
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