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| Fetal anomalies v0.872 | DLL3 | Zornitza Stark Marked gene: DLL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.872 | DLL3 | Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.872 | DLL3 | Zornitza Stark Phenotypes for gene: DLL3 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.871 | DLL3 | Zornitza Stark Publications for gene: DLL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.870 | DLL3 | Zornitza Stark edited their review of gene: DLL3: Changed publications: 10742114, 12746394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.870 | DLL3 | Zornitza Stark edited their review of gene: DLL3: Changed publications: 10742114, 10742114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.870 | DLL3 |
Zornitza Stark changed review comment from: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. ; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. More than 10 unrelated families reported, well established gene-disease association. |
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| Fetal anomalies v0.870 | DLL3 |
Zornitza Stark changed review comment from: Single case report where CDH was observed in addition to the skeletal abnormalities, predates gene identification.; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. |
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| Fetal anomalies v0.870 | DLL3 | Zornitza Stark edited their review of gene: DLL3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DLL3 |
Zornitza Stark gene: DLL3 was added gene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 |
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