Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Fetal anomalies v0.1099 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Fetal anomalies v0.1099 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Fetal anomalies v0.1099 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from ABCD SYNDROME to Waardenburg syndrome, type 4A, MIM#277580; ABCD syndrome, MIM# 600501
Fetal anomalies v0.1098 EDNRB Zornitza Stark Mode of inheritance for gene: EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1097 EDNRB Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Well established gene-disease association. Hirschsprung's disease and decreased myenteric and submucosal ganglia in the bowel.
Fetal anomalies v0.1097 EDNRB Zornitza Stark edited their review of gene: EDNRB: Changed rating: GREEN
Fetal anomalies v0.0 EDNRB Zornitza Stark gene: EDNRB was added
gene: EDNRB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRB were set to ABCD SYNDROME