Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.226 FBXO11 Rebecca Foulger Source Expert Review Red was added to FBXO11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.225 FBXO11 Rebecca Foulger edited their review of gene: FBXO11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBXO11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.197 FBXO11 Rebecca Foulger Tag watchlist tag was added to gene: FBXO11.
Fetal anomalies v0.197 FBXO11 Rebecca Foulger commented on gene: FBXO11: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Variable Neurodevelopmental Disorder. Rated possible for FBXO11 related intellectual disability.
Fetal anomalies v0.193 FBXO11 Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.192 FBXO11 Rebecca Foulger gene: FBXO11 was added
gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 30057029
Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder