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Cytopenias and congenital anaemias

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

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 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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Eos leukaemia; Chronic eosinophilic leukaemia

Publications

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685
Tags
somatic
OMIM
173490
Clinvar variants
Variants in PDGFRA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

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.

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PDGFRA were set to 24975316; 17555450; 12660384

9 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PDGFRA were set to Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685

9 Mar 2017, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PDGFRA was changed to Unknown

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PDGFRA was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PDGFRA was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)