Sarcoma cancer susceptibility
Gene: PDGFRA

PDGFRA (platelet derived growth factor receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels

3 reviews

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Jan 2019, 10:28 a.m.

Panel version: Imported from Inherited predisposition to GIST panel version 0.3

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 30 Jan 2019, 10:28 a.m.

Panel version: Imported from Inherited predisposition to GIST panel version 0.3

Ellen McDonagh (Genomics England Curator)

This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.
Created: 20 Aug 2018, 1:29 p.m.

Gene and evidence provided by Adrienne Flanagan, UCL.
Created: 14 May 2018, 3:33 p.m.

Created: 14 May 2018, 3:33 p.m.

Panel version: 0.35

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert list

Phenotypes

Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
Familial Gastrointestinal stromal tumour
Familial GIST

OMIM

173490

Clinvar variants

Variants in PDGFRA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PDGFRA were changed from 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

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Gene and evidence provided by

14 May 2018, Gel status: 3