Childhood 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
EnsemblGeneIds (GRCh38): ENSG00000134853
EnsemblGeneIds (GRCh37): ENSG00000134853
OMIM: 173490, Gene2Phenotype
PDGFRA is in 10 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- 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
-
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Cytopenias and congenital anaemias
- COVID-19 research
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
History Filter Activity
24 Jan 2024, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PDGFRA were changed from 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
26 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PDGFRA was added gene: PDGFRA was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDGFRA were set to Familial GIST; Gastrointestinal stromal tumor, somatic 606764