Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.3207 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Fetal anomalies v0.3207 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3207 FUT8 Zornitza Stark Publications for gene: FUT8 were set to
Fetal anomalies v0.3206 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Fetal anomalies v0.3206 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3205 FUT8 Zornitza Stark changed review comment from: Three unrelated individuals reported with bi-allelic variants in this gene.
Sources: Expert list; to: Three unrelated individuals reported with bi-allelic variants in this gene. IUGR and congenital anomalies reported.
Sources: Expert list
Fetal anomalies v0.0 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005; Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775