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Fetal anomalies v0.229 UFM1 Rebecca Foulger Source Expert Review Red was added to UFM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.228 UFM1 Rebecca Foulger edited their review of gene: UFM1: 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 UFM1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.116 UFM1 Rebecca Foulger reviewed gene: UFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.115 UFM1 Rebecca Foulger gene: UFM1 was added
gene: UFM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly,