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  3. PDGFRA
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Tumour predisposition - adult onset

Gene: PDGFRA

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Adult solid tumours for rare disease (Version 1.21)
Phenotypes
  • Gastrointestinal stromal tumor
OMIM
173490
Clinvar variants
Variants in PDGFRA
Penetrance
None
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.

17 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PDGFRA was added gene: PDGFRA was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Red 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