| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v1.81 | C12orf40 | Zornitza Stark Classified gene: C12orf40 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.81 | C12orf40 | Zornitza Stark Gene: c12orf40 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.80 | C12orf40 |
Zornitza Stark gene: C12orf40 was added gene: C12orf40 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: C12orf40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf40 were set to 41580510; 37612290; 37604834 Phenotypes for gene: C12orf40 were set to Infertility disorder, MONDO:0005047, C12orf40-related Review for gene: C12orf40 was set to GREEN Added comment: PMID 37604834, 37612290 and 41580510 report a total of 8 individuals from 6 unrelated families with biallelic loss-of-function C12ORF40 variants presenting with severe male infertility due to spermatogenic failure (non‑obstructive azoospermia or severe oligoasthenoteratozoospermia). Affected men have normal hormone levels but exhibit meiotic arrest or markedly increased sperm sex‑chromosome aneuploidy. Mouse knockout and knock‑in models recapitulate the infertility phenotype, and in vitro assays demonstrate loss of nucleic‑acid binding activity, supporting pathogenicity. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||