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Fetal anomalies v0.154 PCCA Rebecca Foulger Source Expert Review Red was added to PCCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.153 PCCA Rebecca Foulger edited their review of gene: PCCA: 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: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 PCCA Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 PCCA Rebecca Foulger gene: PCCA was added
gene: PCCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA