| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hydrops fetalis v0.189 | FLVCR2 | Zornitza Stark Marked gene: FLVCR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.189 | FLVCR2 | Zornitza Stark Gene: flvcr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.189 | FLVCR2 | Zornitza Stark Phenotypes for gene: FLVCR2 were changed from Cystic hygroma; hydrops; hydranencephal; arthrogryposis to Cystic hygroma; hydrops; hydranencephaly; arthrogryposis; Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.188 | FLVCR2 | Zornitza Stark Publications for gene: FLVCR2 were set to PMID: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.187 | FLVCR2 | Zornitza Stark Classified gene: FLVCR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.187 | FLVCR2 | Zornitza Stark Gene: flvcr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.186 | FLVCR2 | Zornitza Stark changed review comment from: Single case reported as part of big prenatal series.; to: Single case reported with cystic hygroma as part of big prenatal series. More typical presentation is with hydrocephalus, fetal akinesia, polyhydramnios. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.186 | FLVCR2 | Zornitza Stark edited their review of gene: FLVCR2: Changed phenotypes: Cystic hygroma, Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.186 | FLVCR2 | Zornitza Stark reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 30712878; Phenotypes: Cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.186 | FLVCR2 |
John Christodoulou gene: FLVCR2 was added gene: FLVCR2 was added to Hydrops fetalis. Sources: Other Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR2 were set to PMID: 30712878 Phenotypes for gene: FLVCR2 were set to Cystic hygroma; hydrops; hydranencephal; arthrogryposis Penetrance for gene: FLVCR2 were set to unknown Review for gene: FLVCR2 was set to RED Added comment: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study. DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||