PDGFRA

platelet derived growth factor receptor alpha
OMIM: 173490, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red PDGFRA in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

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

Green PDGFRA in Mendeliome


Version 1.1902

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

Red PDGFRA in CGC_86


Version 0.2

review Other
Sources
  • CGC_86
Phenotypes
  • Gastrointestinal stroma tumor

Red PDGFRA in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • Gastrointestinal stroma tumor

Red PDGFRA in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Gastrointestinal stroma tumor

Green PDGFRA in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green