Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Fetal anomalies v0.4636 PCNT Zornitza Stark Marked gene: PCNT as ready
Fetal anomalies v0.4636 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Fetal anomalies v0.4636 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Fetal anomalies v0.4635 PCNT Zornitza Stark Publications for gene: PCNT were set to
Fetal anomalies v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II