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Childhood solid tumours

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
PDGFRA is associated with Gastrointestinal stromal tumor, somatic (606764) in OMIM and not associated with any phenotype in Gene2Phenotype. There are 4 published cases of unrelated individuals diagnosed with familial GIST with different germline variants in PDGFRA. Therefore, there is enough evidence to promote this gene to green status.
Created: 25 Jun 2019, 12:24 p.m. | Last Modified: 25 Jun 2019, 12:24 p.m.
Panel Version: 1.24

Publications

Created: 25 Jun 2019, 12:24 p.m.
Last Modified: 25 Jun 2019, 12:24 p.m.
Panel version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial GIST; Gastrointestinal stromal tumor, somatic 606764

Created: 30 Jan 2019, 11:20 a.m.

Panel version: 1.23

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Expert List
Phenotypes
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
  • Familial Gastrointestinal stromal tumour
  • Familial GIST
OMIM
173490
Clinvar variants
Variants in PDGFRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PDGFRA were changed from Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic 606764; Familial GIST; Gastrointestinal stromal tumor, somatic, 606764 to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Familial Gastrointestinal stromal tumour; Familial GIST

2 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PDGFRA. Mode of inheritance for gene PDGFRA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gastrointestinal stromal tumor, somatic 606764; Familial GIST for gene: PDGFRA

25 Jun 2019, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Expert list was added to PDGFRA. Source Expert Review Green was added to PDGFRA. Mode of inheritance for gene PDGFRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic, 606764 for gene: PDGFRA Publications for gene PDGFRA were changed from to 17566086; 14699510; 25975287; 17087943 Rating Changed from Red List (low evidence) to 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 Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: PDGFRA was set to