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| Mendeliome v1.4536 | TFDP3 | Zornitza Stark Marked gene: TFDP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4536 | TFDP3 | Zornitza Stark Gene: tfdp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4536 | TFDP3 | Zornitza Stark Classified gene: TFDP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4536 | TFDP3 | Zornitza Stark Gene: tfdp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4535 | TFDP3 |
Zornitza Stark gene: TFDP3 was added gene: TFDP3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TFDP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TFDP3 were set to 41634254 Phenotypes for gene: TFDP3 were set to Infertility disorder, MONDO:0005047, TFDP3-related Review for gene: TFDP3 was set to GREEN Added comment: PMID 41634254 reports 8 individuals from 7 families with X‑linked hemizygous TFDP3 loss‑of‑function variants presenting with severe oligoasthenoteratozoospermia. Affected males have dramatically reduced sperm concentration, motility, and abnormal morphology. Functional studies show reduced TFDP3 protein in patient sperm and recapitulation of the infertility phenotype in TFDP3 knock‑down cynomolgus monkeys with increased E2F1‑mediated apoptosis. Sources: Literature |
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