Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Fetal anomalies v0.165 WDR45 Rebecca Foulger Source Expert Review Red was added to WDR45.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.161 WDR45 Rebecca Foulger edited their review of gene: WDR45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 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. Additional notes from clinical review: Iron deposition, doesn't seem to present prenatally. Action taken: Demoted WDR45 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 WDR45 Rebecca Foulger reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 WDR45 Rebecca Foulger gene: WDR45 was added
gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION