Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.3022 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Fetal anomalies v0.3022 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Fetal anomalies v0.3022 PIK3C2A Zornitza Stark Publications for gene: PIK3C2A were set to
Fetal anomalies v0.3021 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Fetal anomalies v0.3021 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Fetal anomalies v0.3020 PIK3C2A Zornitza Stark changed review comment from: Three unrelated families, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated families, cataracts and skeletal abnormalities are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.0 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3C2A were set to Oculocerebrodental syndrome, MONDO:0034145; Oculoskeletodental syndrome, OMIM:618440