Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v1.356 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Fetal anomalies v1.356 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Fetal anomalies v1.355 IFT81 Zornitza Stark edited their review of gene: IFT81: Added comment: More than 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 27666822, 37427975, 32783357
Fetal anomalies v0.3293 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Fetal anomalies v0.3293 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT81 were set to 30080953; 26275418; 32783357; 27666822
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485; Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895