Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.3061 MUSK Zornitza Stark Publications for gene: MUSK were set to
Fetal anomalies v0.2950 MUSK Alison Yeung Marked gene: MUSK as ready
Fetal anomalies v0.2950 MUSK Alison Yeung Gene: musk has been classified as Green List (High Evidence).
Fetal anomalies v0.2950 MUSK Alison Yeung Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101
Fetal anomalies v0.2949 MUSK Alison Yeung reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: None
Fetal anomalies v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence