Sarcoma susceptibility

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

4 reviews

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: variants in PDGFRA are associated with GIST (Gastrointestinal stromal tumor). GIST is not included in the clinical indication for the GMS Sarcoma panel and therefore agreed that the rating should be Red.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

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

Lara Hawkes (Genomics England)

Green List (high evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Expert list
Phenotypes
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
OMIM
173490
Clinvar variants
Variants in PDGFRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor, somatic 606764; Familial GIST to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285

11 Feb 2021, Gel status: 1

Clear Sources

Arina Puzriakova (Genomics England Curator)

Source: Expert Review Green was removed from gene: PDGFRA

23 Jul 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PDGFRA was added gene: PDGFRA was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRA were set to 26297068; 14699510; 17566086; 25975287 Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, somatic 606764; Familial GIST