| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Infertility and Recurrent Pregnancy Loss v0.146 | RNF216 | Zornitza Stark Marked gene: RNF216 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.146 | RNF216 | Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.146 | RNF216 | Zornitza Stark Classified gene: RNF216 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.146 | RNF216 | Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | RNF216 |
Jasmine Chew gene: RNF216 was added gene: RNF216 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF216 were set to 31200363; 25841028; 39444518; 38050071 Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840 Review for gene: RNF216 was set to GREEN Added comment: Biallelic variants reported for HH phenotype-PMID:31200363;25841028;39444518 PMID:38050071 (review paper, 2024)- Over 90% of individuals presented with cognitive impairment and hypogonadotropic hypogonadism throughout the disease. Male individuals seemed to be more vulnerable than female individuals. Most male individuals suffered from poor pubertal development. .This phenomenon was consistent with the results of previous animal experiments, whereby targeted deletion of the RNF216 gene in mice resulted in disruption in spermatogenesis and male infertility, but RNF216 was not required for female fertility. Sources: Literature |
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