Childhood solid tumours
Gene: PDGFRA
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
PDGFRA is associated with Gastrointestinal stromal tumor, somatic (606764) in OMIM and not associated with any phenotype in Gene2Phenotype. There are 4 published cases of unrelated individuals diagnosed with familial GIST with different germline variants in PDGFRA. Therefore, there is enough evidence to promote this gene to green status.Created: 25 Jun 2019, 12:24 p.m. | Last Modified: 25 Jun 2019, 12:24 p.m.
Panel Version: 1.24
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial GIST; Gastrointestinal stromal tumor, somatic 606764
Phenotypes for gene: PDGFRA were changed from Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic 606764; Familial GIST; Gastrointestinal stromal tumor, somatic, 606764 to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Familial Gastrointestinal stromal tumour; Familial GIST
Source NHS GMS was added to PDGFRA. Mode of inheritance for gene PDGFRA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gastrointestinal stromal tumor, somatic 606764; Familial GIST for gene: PDGFRA
Source Expert list was added to PDGFRA. Source Expert Review Green was added to PDGFRA. Mode of inheritance for gene PDGFRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic, 606764 for gene: PDGFRA Publications for gene PDGFRA were changed from to 17566086; 14699510; 25975287; 17087943 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PDGFRA was added gene: PDGFRA was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: PDGFRA was set to