Sarcoma susceptibilityGene: PDGFRA
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: variants in PDGFRA are associated with GIST (Gastrointestinal stromal tumor). GIST is not included in the clinical indication for the GMS Sarcoma panel and therefore agreed that the rating should be Red.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Variants in this GENE are reported as part of current diagnostic practice
This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.
Created: 20 Aug 2018, 1:29 p.m.
Gene and evidence provided by Adrienne Flanagan, UCL.
Created: 14 May 2018, 3:33 p.m.
Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor, somatic 606764; Familial GIST to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Source: Expert Review Green was removed from gene: PDGFRA
gene: PDGFRA was added gene: PDGFRA was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRA were set to 26297068; 14699510; 17566086; 25975287 Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, somatic 606764; Familial GIST