Adult solid tumours for rare diseaseGene: PDGFRA
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.
Created: 11 Dec 2018, 12:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gastrointestinal stromal tumor
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