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| Adult solid tumours for rare disease v1.40 | PDGFRA | Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours for rare disease v1.36 | PDGFRA | Sumir Pandit reviewed gene: PDGFRA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29486293; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours for rare disease v1.21 | PDGFRA |
Anna de Burca gene: PDGFRA was added gene: PDGFRA was added to Adult solid tumours for rare disease. Sources: Literature 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 Penetrance for gene: PDGFRA were set to Incomplete Review for gene: PDGFRA was set to AMBER Added comment: Although GIST is predominantly associated with somatic variants in this gene, germline variants have been described in familial GIST and it is green on the sarcoma pertinent cancer susceptibility panel. Sources: Literature |
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