Adult solid tumours cancer susceptibility
Gene: PDGFRA

PDGFRA (platelet derived growth factor receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

This is a Red gene on the Adult solid tumours for rare disease (Version 1.21) gene panel, and was added to this panel for review.
Created: 28 Mar 2019, 5:03 p.m.

Created: 28 Mar 2019, 5:03 p.m.

Panel version: 1.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

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

Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

28 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PDGFRA was added gene: PDGFRA was added to Adult solid tumours cancer susceptibility. Sources: Literature Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor

Adult solid tumours cancer susceptibility Gene: PDGFRA