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 1.40	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 1.142	review	Unknown	Sources Expert Review Amber OMIM Expert list
Green PDGFRA in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 1.14 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 1.118	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 1.25	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 1.27	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 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 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 Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 1.81 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