Cytopenias and congenital anaemias
Gene: PDGFRAEnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotype Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685 results from interstitial deletion on chromosome 4q12, which procudes the fusion gene FIP1L1-PDGFRA, which was found to be a constitutively activated tyrosine kinase that transforms hematopoietic cells and is inhibited by imatinib (pmid 12660384)Created: 9 Mar 2017, 11:59 a.m.
Comment on phenotypes: Eos leukaemia; Chronic eosinophilic leukaemia. Variants also associated with Gastrointestinal stromal tumor, somatic 606764Created: 9 Mar 2017, 11:54 a.m.
Comment on mode of inheritance: Somatic, isolated case according to omimCreated: 9 Mar 2017, 11:53 a.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Hypereosinophilic syndrome, idiopathic, resistant to imatinib, OMIM:607685
- Tags
- OMIM
- 173490
- Clinvar variants
- Variants in PDGFRA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- COVID-19 research
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PDGFRA were changed from Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685 to Hypereosinophilic syndrome, idiopathic, resistant to imatinib, OMIM:607685
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PDGFRA were set to 24975316; 17555450; 12660384
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PDGFRA were set to Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PDGFRA was changed to Unknown
Created
Louise Daugherty (Genomics England Curator)PDGFRA was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)PDGFRA was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)