| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v0.200 | FKBP4 | Zornitza Stark Marked gene: FKBP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.200 | FKBP4 | Zornitza Stark Gene: fkbp4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.200 | FKBP4 | Zornitza Stark Phenotypes for gene: FKBP4 were changed from Recurrent pregnancy loss susceptibility to Recurrent pregnancy loss susceptibility, MONDO:0000144, FKBP4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.199 | FKBP4 | Zornitza Stark Classified gene: FKBP4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.199 | FKBP4 | Zornitza Stark Gene: fkbp4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | FKBP4 |
Jasmine Chew gene: FKBP4 was added gene: FKBP4 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: FKBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FKBP4 were set to 31504499 Phenotypes for gene: FKBP4 were set to Recurrent pregnancy loss susceptibility Review for gene: FKBP4 was set to AMBER Added comment: i) PMID: 31504499- Four heterozygous missense variants (Ala16Glu, Asn125Ser, Gln381Leu, Arg399Gln) at conserved residues within two functional domains of FKBP52 identified in four different Asian patients with RPL. The variants were predicted to have damaging effects to structure-function properties and were shown to abrogate PPIase activity in a cell-based assay. - Although FKBP4 heterozygous null animals were all fertile and without reproductive failures, both male and female homozygous mice were reported to be infertile, highlighting the importance of FKBP52 in reproduction. Interestingly, male null mice were found to produce viable spermatozoa but had defects in reproductive tissues consistent with androgen insensitivity. Female null mice were anatomically normal, but infertility was found to be a consequence of either implantation failure or pregnancy loss following implantation, which was associated with impaired progesterone function. - There remains a possibility that this apparent population bias might suggest an Asian specific cause of RPL. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||