PDGFRA

platelet derived growth factor receptor alpha
OMIM: 173490, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red PDGFRA in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Gastrointestinal stromal tumor

Green PDGFRA in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Expert List
Phenotypes
  • Familial Gastrointestinal stromal tumour
  • Gastrointestinal stromal tumor, somatic 606764
  • Familial GIST
  • Gastrointestinal stromal tumor, somatic, 606764

Green PDGFRA in Inherited predisposition to GIST


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List

Red PDGFRA in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.73

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685
Tags
  • somatic

Green PDGFRA in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial GIST
  • Gastrointestinal stromal tumor, somatic 606764

Amber PDGFRA in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Familial GIST
  • Gastrointestinal stromal tumor, somatic 606764

Red PDGFRA in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Gastrointestinal stromal tumor

Red PDGFRA in Sarcoma susceptibility


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Gastrointestinal stromal tumor, somatic 606764
  • Familial GIST