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| Infertility and Recurrent Pregnancy Loss v0.170 | TP63 | Zornitza Stark Marked gene: TP63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.170 | TP63 | Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.170 | TP63 | Zornitza Stark Classified gene: TP63 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.170 | TP63 | Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | TP63 |
Jasmine Chew gene: TP63 was added gene: TP63 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to 30924587; 35801529; 36856110; 27798044 Phenotypes for gene: TP63 were set to Premature ovarian failure 21, MIM# 620311 Review for gene: TP63 was set to GREEN Added comment: Monoallelic missense/LOF variants reported for POI- PMID: 30924587; 35801529;36856110 - PMID: 35801529;36856110- suggested that POF-related variants cause constitutive activation of the oocyte-specific TAp63-alpha isoform, increasing expression of downstream targets that can initiate the apoptotic pathway in oocytes. - PMID:36856110- Heterozygous mutant females were infertile, whereas mutant males were fertile. Eexpression of mutant p63 lacking the TID resulted in rapid depletion of oocytes and loss of fertility, similar to the human POF phenotype. PMID: 27798044- monoallelic variants for Mullerian duct anomalies Sources: Literature |
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