| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mosaic skin disorders - deep sequencing v0.21 | NF2 | Catherine Snow Classified gene: NF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.21 | NF2 | Catherine Snow Gene: nf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.20 | NF2 |
Catherine Snow gene: NF2 was added gene: NF2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF2 were set to 29409008 Phenotypes for gene: NF2 were set to NEUROFIBROMATOSIS, TYPE II; NF2 Added comment: Added to panel as advised by Genomics England Clinical Team as NF2 is tested on mosaic panel at GOSH and "targeted NGS can detect low level mosaicism in blood (often tumour tissue is tested if available but some may be detectable with deep sequencing of blood)". Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||