Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Skeletal ciliopathies v1.10 | CENPF | Arina Puzriakova Tag curated_removed tag was added to gene: CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v0.16 | CENPF | Eleanor Williams Classified gene: CENPF as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v0.16 | CENPF | 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 phenotype is polydactyly only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v0.16 | CENPF | Eleanor Williams Gene: cenpf has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v0.15 | CENPF | Eleanor Williams commented on gene: CENPF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal ciliopathies v0.1 | CENPF |
Eleanor Williams gene: CENPF was added gene: CENPF was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |