PDGFRA

platelet derived growth factor receptor alpha
OMIM: 173490, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PDGFRA in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • coloboma MONDO#0001476, PDGFRA-related

Green PDGFRA in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510
  • coloboma MONDO#0001476, PDGFRA-related

Green PDGFRA in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green PDGFRA in Gastrointestinal Stromal Tumour


Level 2: Cancer Predisposition
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Gastrointestinal stromal tumor, MONDO:0011719
  • Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, MIM#175510