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Fetal anomalies v0.165 UBE3A Rebecca Foulger Source Expert Review Red was added to UBE3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.161 UBE3A Rebecca Foulger edited their review of gene: UBE3A: 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. Action taken: Demoted UBE3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 UBE3A Rebecca Foulger commented on gene: UBE3A: DDG2P rating in original PAGE list: Confirmed for ANGELMAN SYNDROME
Fetal anomalies v0.3 UBE3A Rebecca Foulger reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 UBE3A Rebecca Foulger gene: UBE3A was added
gene: UBE3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME