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Inherited predisposition to GIST

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Hypereosinophilic syndrome, idiopathic, resistant to imatinib (MIM# 607685)
Created: 8 Mar 2021, noon | Last Modified: 8 Mar 2021, noon
Panel Version: 1.6

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 1:06 p.m. | Last Modified: 31 Jul 2019, 1:06 p.m.
Panel Version: 0.21

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)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
OMIM
173490
Clinvar variants
Variants in PDGFRA
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PDGFRA were changed from to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pdgfra has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PDGFRA was added gene: PDGFRA was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS Mode of inheritance for gene: PDGFRA was set to