| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Gastrointestinal Stromal Tumour v0.16 | PDGFRA | Zornitza Stark Marked gene: PDGFRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal Stromal Tumour v0.16 | PDGFRA | Zornitza Stark Gene: pdgfra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal Stromal Tumour v0.5 | PDGFRA | Chirag Patel Classified gene: PDGFRA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal Stromal Tumour v0.5 | PDGFRA | Chirag Patel Gene: pdgfra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal Stromal Tumour v0.2 | PDGFRA |
Chirag Patel gene: PDGFRA was added gene: PDGFRA was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, MIM#175510 Mode of pathogenicity for gene: PDGFRA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PDGFRA was set to GREEN Added comment: ClinGen definitive. GOF variants. Sources: Expert list, Expert Review |
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