Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sarcoma susceptibility v1.14 | MTAP | Arina Puzriakova Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250; Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma susceptibility v0.2 | MTAP | Rebecca Foulger reviewed gene: MTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sarcoma susceptibility v0.0 | MTAP |
Rebecca Foulger gene: MTAP was added gene: MTAP was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTAP were set to 19197386; 22464254 Phenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone |