| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v0.739 | PPIB | Zornitza Stark Marked gene: PPIB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.739 | PPIB | Zornitza Stark Gene: ppib has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.739 | PPIB | Zornitza Stark Phenotypes for gene: PPIB were changed from Osteogenesis imperfecta, type IX 259440 to Osteogenesis imperfecta, type IX, MIM# 259440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.738 | PPIB | Zornitza Stark Publications for gene: PPIB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.737 | PPIB |
Naomi Baker changed review comment from: Well established gene-disease association with lethal or severe phenotype. PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs. PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.; to: Well established gene-disease association with lethal or severe OI phenotype. PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs. PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.737 | PPIB | Naomi Baker reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PPIB |
Zornitza Stark gene: PPIB was added gene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||