Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fetal anomalies v0.2679 | PAPSS2 | Zornitza Stark Marked gene: PAPSS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2679 | PAPSS2 | Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2679 | PAPSS2 | Zornitza Stark Phenotypes for gene: PAPSS2 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2678 | PAPSS2 | Zornitza Stark Publications for gene: PAPSS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2677 | PAPSS2 | Zornitza Stark reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | PAPSS2 |
Zornitza Stark gene: PAPSS2 was added gene: PAPSS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE |