| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v0.22 | FKBP6 | Zornitza Stark Marked gene: FKBP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.22 | FKBP6 | Zornitza Stark Gene: fkbp6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.22 | FKBP6 | Zornitza Stark Classified gene: FKBP6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.22 | FKBP6 | Zornitza Stark Gene: fkbp6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | FKBP6 |
Jasmine Chew gene: FKBP6 was added gene: FKBP6 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: FKBP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP6 were set to 36150389 Phenotypes for gene: FKBP6 were set to Spermatogenic failure 77, MIM# 620103 Review for gene: FKBP6 was set to GREEN Added comment: i) PMID: 36150389- compound heterozygous/ homozygous LOF variants in 6 unrelated infertile men (Dutch/German/Brazilian/Kyrgyz) with spermatogenic failure. Analysis of testicular histology was consistent with onset of germ cell loss in late meiosis and early spermiogenesis. Lack of FKBP6 expression in the testis was confirmed by RT-qPCR and immunofluorescence staining. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||