Adult solid tumours for rare disease
Gene: PDGFRA
This paper describes presence of a germline PDGFRA mutation in four-first degree relatives of a family with the index patient having IFPs and GIST.Created: 4 Jul 2023, 11:43 a.m. | Last Modified: 4 Jul 2023, 11:43 a.m.
Panel Version: 1.36
Publications
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: LiteratureCreated: 11 Dec 2018, 12:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gastrointestinal stromal tumor
Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
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