| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.298 | CCER1 | Zornitza Stark Marked gene: CCER1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.298 | CCER1 | Zornitza Stark Gene: ccer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.298 | CCER1 | Zornitza Stark Phenotypes for gene: CCER1 were changed from Infertility disorder, MONDO:0005047 to Infertility disorder, MONDO:0005047, CCER1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.297 | CCER1 | Zornitza Stark Classified gene: CCER1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.297 | CCER1 | Zornitza Stark Gene: ccer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.296 | CCER1 |
Zornitza Stark gene: CCER1 was added gene: CCER1 was added to Mendeliome. 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 |
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