| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v2.31 | CCER1 | Zornitza Stark Marked gene: CCER1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.31 | CCER1 | Zornitza Stark Gene: ccer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.31 | CCER1 | Zornitza Stark Classified gene: CCER1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.31 | CCER1 | Zornitza Stark Gene: ccer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v2.30 | CCER1 |
Zornitza Stark gene: CCER1 was added gene: CCER1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: CCER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCER1 were set to 38081819 Phenotypes for gene: CCER1 were set to Infertility disorder, MONDO:0005047 Review for gene: CCER1 was set to GREEN Added comment: PMID 38081819 reports 5 individuals from 5 families with heterozygous loss-of-function CCER1 variants presenting with nonobstructive azoospermia (NOA). Mouse knockout recapitulates male infertility and patient-derived mutant proteins lack phase‑separated nuclear condensates, supporting a loss‑of‑function (haploinsufficiency) mechanism. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||