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| Mendeliome v1.4191 | NXF3 | Zornitza Stark edited their review of gene: NXF3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4191 | NXF3 | Zornitza Stark Marked gene: NXF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4191 | NXF3 | Zornitza Stark Gene: nxf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4191 | NXF3 | Zornitza Stark Mode of inheritance for gene: NXF3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4190 | NXF3 |
Zornitza Stark gene: NXF3 was added gene: NXF3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NXF3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NXF3 were set to 40624043 Phenotypes for gene: NXF3 were set to Spermatogenic failure, MONDO:0004983, NXF3-related Review for gene: NXF3 was set to RED Added comment: PMID 40624043 reports a single individual with a hemizygous stop‑gain NXF3 variant inherited from a heterozygous carrier mother, presenting with severe oligoasthenoteratozoospermia. Functional studies show a truncated protein lacking the NTF2‑like domain, loss of binding to NXT2, and absence of NXF3 staining in sperm, supporting a loss‑of‑function mechanism. Sources: Literature |
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