Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.771 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Fetal anomalies v0.771 ACO2 Zornitza Stark Gene: aco2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.771 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, MIM# 614559
Fetal anomalies v0.770 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Fetal anomalies v0.769 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519; Phenotypes: Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION