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Fetal anomalies v0.417 CEP104 Zornitza Stark changed review comment from: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated individuals reported, structural brain abnormalities are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.417 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Fetal anomalies v0.417 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Fetal anomalies v0.417 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Fetal anomalies v0.416 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Fetal anomalies v0.0 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781