| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v0.135 | PREPL | Zornitza Stark Marked gene: PREPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.135 | PREPL | Zornitza Stark Gene: prepl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.135 | PREPL | Zornitza Stark Phenotypes for gene: PREPL were changed from Hypergonadotropic hypogonadism to Myasthenic syndrome, congenital, 22, MIM# 616224; Hypergonadotropic hypogonadism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.134 | PREPL | Zornitza Stark Classified gene: PREPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.134 | PREPL | Zornitza Stark Gene: prepl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | PREPL |
Jasmine Chew changed review comment from: Hypergonadotropic hypogonadism is one of the phenotypes of prolyl endopeptidase-like (PREPL) deficiency. Biallelic variants reported in patients with PREPL deficiency- PMID: 34794894;28726805;30924587;32218803 Sources: Literature; to: Hypergonadotropic hypogonadism/POI is one of the phenotypes of prolyl endopeptidase-like (PREPL) deficiency. Biallelic variants reported in patients with PREPL deficiency- PMID: 34794894;28726805;30924587;32218803. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | PREPL |
Jasmine Chew gene: PREPL was added gene: PREPL was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 34794894; 28726805; 30924587; 32218803 Phenotypes for gene: PREPL were set to Hypergonadotropic hypogonadism Review for gene: PREPL was set to GREEN Added comment: Hypergonadotropic hypogonadism is one of the phenotypes of prolyl endopeptidase-like (PREPL) deficiency. Biallelic variants reported in patients with PREPL deficiency- PMID: 34794894;28726805;30924587;32218803 Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||