Genomics England
GMS Panels
Panels
Genes and Entities

PDGFRA

platelet derived growth factor receptor alpha
OMIM: 173490
PanelMode of inheritanceDetails
2 panels
Green
in Childhood solid tumours
Signed-off version 5.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510, Familial Gastrointestinal stromal tumour, Familial GIST
Green
in Inherited predisposition to GIST
R-numbers: R363
Signed-off version 1.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510, Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285