Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.304 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Fetal anomalies v0.304 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Fetal anomalies v0.304 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358; GRACILE SYNDROME to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Fetal anomalies v0.303 BCS1L Zornitza Stark Publications for gene: BCS1L were set to 30712880
Fetal anomalies v0.302 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 24172246, 17314340; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 30712880
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358; GRACILE SYNDROME