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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 10 panels

2 reviews

Sumir Pandit (University of Goettingen)

I don't know

This paper describes presence of a germline PDGFRA mutation in four-first degree relatives of a family with the index patient having IFPs and GIST.
Created: 4 Jul 2023, 11:43 a.m. | Last Modified: 4 Jul 2023, 11:43 a.m.
Panel Version: 1.36

Publications

Created: 4 Jul 2023, 11:43 a.m.
Last Modified: 4 Jul 2023, 11:43 a.m.
Panel version: 1.36

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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

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

Panel version: 1.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
OMIM
173490
Clinvar variants
Variants in PDGFRA
Penetrance
Incomplete
Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510

11 Dec 2018, Gel status: 1

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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