Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.1791 GSC Zornitza Stark Marked gene: GSC as ready
Fetal anomalies v0.1791 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Fetal anomalies v0.1791 GSC Zornitza Stark Publications for gene: GSC were set to
Fetal anomalies v0.1790 GSC Zornitza Stark Classified gene: GSC as Green List (high evidence)
Fetal anomalies v0.1790 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Fetal anomalies v0.1765 GSC Ain Roesley reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 GSC Zornitza Stark gene: GSC was added
gene: GSC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227; Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471