| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genomic screening in children: BabyScreen+ v0.48 | VWF |
Lilian Rudd gene: VWF was added gene: VWF was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: VWF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VWF were set to von Willebrand disease, type 3 MIM#277480 Review for gene: VWF was set to AMBER Added comment: Recessive more severe form suitable for screening as treatable with desmopressin/FVIII/VWF particularly around surgery. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||