Adult solid tumours for rare disease

Gene: PDGFRA

Red List (low evidence)

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

1 review

Anna de Burca (Genomics England Curator)

I don't know

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: Literature
Created: 11 Dec 2018, 12:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gastrointestinal stromal tumor

History Filter Activity

11 Dec 2018, Gel status: 1

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

Anna de Burca (Genomics England Curator)

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