| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v2.184 | UNC45A |
Eleanor Williams Tag Q3_21_rating was removed from gene: UNC45A. Tag Q3_21_NHS_review was removed from gene: UNC45A. |
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| Skeletal dysplasia v2.184 | UNC45A | Eleanor Williams commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.183 | UNC45A |
Eleanor Williams Source Expert Review Green was added to UNC45A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.126 | UNC45A | Eleanor Williams commented on gene: UNC45A: Copied this gene from the Osteogenesis imperfecta panel, as all green genes on that panel should also be green on the Skeletal dysplasia panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.126 | UNC45A | Eleanor Williams Entity copied from Osteogenesis imperfecta v2.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.126 | UNC45A |
Eleanor Williams gene: UNC45A was added gene: UNC45A was added to Skeletal dysplasia. Sources: Expert list,Expert Review Amber Q3_21_rating, Q3_21_NHS_review tags were added to gene: UNC45A. Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45A were set to 29429573 Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, OMIM:619377 |
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