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Fetal anomalies v0.4480 | RBPJ | Zornitza Stark Marked gene: RBPJ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4480 | RBPJ | Zornitza Stark Gene: rbpj has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4480 | RBPJ | Zornitza Stark Phenotypes for gene: RBPJ were changed from ADAMS OLIVER SYNDROME to Adams-Oliver syndrome 3, MIM#614814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4479 | RBPJ | Zornitza Stark Mode of inheritance for gene: RBPJ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4478 | RBPJ | Zornitza Stark changed review comment from: One of the original families described as having no intellectual disability and the other with mild, so I don't think ID is a core feature of the phenotype.; to: Transverse limb defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4478 | RBPJ | Zornitza Stark edited their review of gene: RBPJ: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | RBPJ |
Zornitza Stark gene: RBPJ was added gene: RBPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBPJ were set to 22883147; 28160419 Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME |