Sarcoma cancer susceptibility

Gene: PDGFRA

Green List (high evidence)

PDGFRA (platelet derived growth factor receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 9 panels

3 reviews

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

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

Lara Hawkes (Genomics England)

Green List (high evidence)

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.

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Gene and evidence provided by

14 May 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 May 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PDGFRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 May 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PDGFRA were set to Familial GIST; Gastrointestinal stromal tumor, somatic 606764

14 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDGFRA was added to Sarcoma pertinent cancer susceptibility panel. Sources: Expert list

14 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PDGFRA was created by Ellen McDonagh