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| Infertility and Recurrent Pregnancy Loss v1.35 | CNTD2 | Zornitza Stark Marked gene: CNTD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.35 | CNTD2 | Zornitza Stark Gene: cntd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.35 | CNTD2 | Zornitza Stark Classified gene: CNTD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.35 | CNTD2 | Zornitza Stark Gene: cntd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.34 | CNTD2 | Zornitza Stark Tag new gene name tag was added to gene: CNTD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.34 | CNTD2 |
Sangavi Sivagnanasundram gene: CNTD2 was added gene: CNTD2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Other Mode of inheritance for gene: CNTD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTD2 were set to 41005306 Phenotypes for gene: CNTD2 were set to Oocyte/zygote/embryo maturation arrest MONDO:0014769 Review for gene: CNTD2 was set to GREEN Added comment: HGNC approved new gene name: CCNP 3 unrelated women presenting with primary infertility and oocyte/embryo defects in IVF. Different biallelic variants were identified - all variants were either absent or rare enough in gnomAD v4.1 for AR gene (p.L59Wfs*11, p.Y231N, and c.358-1G>A). In vivo mouse model showed that the overexpression of mutant CNTD2 mRNA in mouse zygotes led to early embryonic arrest. Sources: Other |
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