Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Skeletal dysplasia v1.270 VDR Eleanor Williams Classified gene: VDR as Green List (high evidence)
Skeletal dysplasia v1.270 VDR Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Hypophosphataemia or rickets panel (panel ID:482, version 2.1) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty
Skeletal dysplasia v1.270 VDR Eleanor Williams Gene: vdr has been classified as Green List (High Evidence).
Skeletal dysplasia v1.269 VDR Eleanor Williams Phenotypes for gene: VDR were changed from to Rickets, vitamin D-resistant, type IIA, 277440
Skeletal dysplasia v1.268 VDR Eleanor Williams Mode of inheritance for gene: VDR was changed from to BIALLELIC, autosomal or pseudoautosomal