Inherited predisposition to GIST
Gene: PDGFRAComment on phenotypes: This gene is also associated with Hypereosinophilic syndrome, idiopathic, resistant to imatinib (MIM# 607685)Created: 8 Mar 2021, noon | Last Modified: 8 Mar 2021, noon
Panel Version: 1.6
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 1:06 p.m. | Last Modified: 31 Jul 2019, 1:06 p.m.
Panel Version: 0.21
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: PDGFRA were set to
Phenotypes for gene: PDGFRA were changed from to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Mode of inheritance for gene: PDGFRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: pdgfra has been classified as Green List (High Evidence).
gene: PDGFRA was added gene: PDGFRA was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS Mode of inheritance for gene: PDGFRA was set to