Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Fetal anomalies v0.229 UBE2A Rebecca Foulger Source Expert Review Red was added to UBE2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.228 UBE2A Rebecca Foulger edited their review of gene: UBE2A: 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 UBE2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 UBE2A Rebecca Foulger reviewed gene: UBE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 UBE2A Rebecca Foulger gene: UBE2A was added
gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION