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  3. PDGFRA
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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 10 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
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
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

Created: 30 Jan 2019, 10:28 a.m.

Panel version: 0.3

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 30 Jan 2019, 10:28 a.m.

Panel version: 0.3

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
Publications
Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PDGFRA were set to

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