Childhood solid tumours cancer susceptibility

Gene: PDGFRA

Amber List (moderate evidence)

PDGFRA (platelet derived growth factor receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 9 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Familial GIST
  • Gastrointestinal stromal tumor, somatic 606764
OMIM
173490
Clinvar variants
Variants in PDGFRA
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PDGFRA was added gene: PDGFRA was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDGFRA were set to Familial GIST; Gastrointestinal stromal tumor, somatic 606764