Sarcoma susceptibility
Gene: PDGFRAEnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels
4 reviews
Rebecca Foulger (Genomics England curator)
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)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
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
-
- Cytopenias and congenital anaemias
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- COVID-19 research
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
History Filter Activity
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
Clear Sources
Arina Puzriakova (Genomics England Curator)Source: Expert Review Green was removed from gene: PDGFRA
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