Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.3541 TBCK Zornitza Stark Marked gene: TBCK as ready
Fetal anomalies v0.3541 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Fetal anomalies v0.3541 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from Severe Infantile Syndromic Encephalopathy to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Fetal anomalies v0.3540 TBCK Zornitza Stark Publications for gene: TBCK were set to
Fetal anomalies v0.3539 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy