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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 |
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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 |