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Fetal anomalies v0.1131 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Fetal anomalies v0.1131 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
Fetal anomalies v0.1130 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Fetal anomalies v0.1129 C1QBP Zornitza Stark Classified gene: C1QBP as Green List (high evidence)
Fetal anomalies v0.1129 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Fetal anomalies v0.1128 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 C1QBP Zornitza Stark gene: C1QBP was added
gene: C1QBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies