PDGFRA

platelet derived growth factor receptor alpha
OMIM: 173490, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red PDGFRA in Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.42	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510
Amber PDGFRA in COVID-19 research Level 2: Viral research Version 1.146	review	Unknown	Sources Expert Review Amber OMIM Expert list
Green PDGFRA in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	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
Green PDGFRA in Inherited predisposition to GIST Level 2: Inherited cancer Version 1.15 Latest signed off version: v1.2 (4 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert List Phenotypes Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510 Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Red PDGFRA in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Unknown	Sources Expert Review Red BRIDGE consortium (NIHRBR-RD) Phenotypes Hypereosinophilic syndrome, idiopathic, resistant to imatinib, OMIM:607685 Tags somatic
Green PDGFRA in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.26	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510 Familial Gastrointestinal stromal tumour Familial GIST
Amber PDGFRA in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	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
Red PDGFRA in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	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
Amber PDGFRA in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bilateral chorioretinal coloboma, microphthalmia and global developmental delay
Red PDGFRA in Sarcoma susceptibility Level 2: Cancer susceptibility Version 1.82 Latest signed off version: v1.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Expert list Phenotypes Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510 Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285