Cytopenias and congenital anaemiasGene: PDGFRA
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 606764
Created: 9 Mar 2017, 11:54 a.m.
Comment on mode of inheritance: Somatic, isolated case according to omim
Created: 9 Mar 2017, 11:53 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for PDGFRA were set to 24975316; 17555450; 12660384
Phenotypes for PDGFRA were set to Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685
Mode of inheritance for PDGFRA was changed to Unknown
PDGFRA was created by LouiseD
PDGFRA was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)