Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.37 | TYROBP |
Eleanor Williams Tag Q3_24_NHS_review was removed from gene: TYROBP. Tag Q3_24_demote_red was removed from gene: TYROBP. Tag Q3_24_expert_review was removed from gene: TYROBP. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.37 | TYROBP | Eleanor Williams edited their review of gene: TYROBP: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.36 | TYROBP |
Eleanor Williams Source Expert Review Red was added to TYROBP. Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.34 | TYROBP |
Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: TYROBP. Tag Q3_24_demote_red tag was added to gene: TYROBP. Tag Q3_24_expert_review tag was added to gene: TYROBP. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.34 | TYROBP | Sarah Leigh reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.34 | TYROBP | Ian Berry reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.24 | TYROBP | Eleanor Williams Phenotypes for gene: TYROBP were changed from Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.3 | TYROBP | Eleanor Williams commented on gene: TYROBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.1 | TYROBP |
Catherine Snow gene: TYROBP was added gene: TYROBP was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||