| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal ciliopathies v1.10 | DDX59 | Arina Puzriakova Tag curated_removed tag was added to gene: DDX59. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.17 | DDX59 | Eleanor Williams Classified gene: DDX59 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.17 | DDX59 | Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team, removing this gene from the skeletal ciliopathies panel as the skeletal phenotype is mainly polydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.17 | DDX59 | Eleanor Williams Gene: ddx59 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.1 | DDX59 |
Eleanor Williams gene: DDX59 was added gene: DDX59 was added to Skeletal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 29127725; 23972372; 28711741 Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 |
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