This Panel is marked as Retired
Multiple Tumours
Gene: PDGFRA
PDGFRA (platelet derived growth factor receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Unsure if this should be green, as variants seem to be somatic. Within the UKGTN Hereditary Cancers 82 Gene Panel for Familial Bowel Cancer.Created: 18 Apr 2017, 10:48 a.m.
Mode of inheritance
Unknown
Phenotypes
Gastrointestinal stromal tumor, somatic 606764; Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- UKGTN
- Phenotypes
-
- Gastrointestinal stromal tumor, somatic 606764
- Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685
- OMIM
- 173490
- Clinvar variants
- Variants in PDGFRA
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Cytopenias and congenital anaemias
- COVID-19 research
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
History Filter Activity
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PDGFRA was added to Multiple Tumourspanel. Sources: UKGTN
18 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PDGFRA was created by ellenmcdonagh