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| Infertility and Recurrent Pregnancy Loss v2.0 | HROB | Gene symbol changed from C17orf53 to HROB during gene set migration (ENSG00000125319 -> ENSG00000125319) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | C17orf53 |
Jasmine Chew gene: C17orf53 was added gene: C17orf53 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf53 were set to 34707299, 38105698,36099812; 31467087 Phenotypes for gene: C17orf53 were set to Ovarian dysgenesis 11, MIM# 620897 Review for gene: C17orf53 was set to GREEN Added comment: HGNC approved symbol- HROB Biallelic variants reported for POI- PMID: 34707299, 38105698,36099812 PMID: 31467087- Knockout mice were infertile due to lack of germ cells. The sterile females had ovaries that lacked follicles, whereas the sterile males had mostly empty seminiferous tubules, suggesting a defect in sperm production. Concluded that these phenotypes were consistent with a prophase I meiotic arrest. Sources: Literature |
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