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Severe Paediatric Disorders

Gene: PDGFRB

Green List (high evidence)

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 18 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PDGFRB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Basal ganglia calcification, idiopathic, 4, 615007 (3) | Kosaki overgrowth syndrome, 616592 (3) | Myeloproliferative disorder with eosinophilia, 131440 (4) | Myofibromatosis, infantile, 1, 228550 (3) | Premature aging syndrome, Penttinen type, 601812 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Myofibromatosis, infantile, 1, 228550
  • Kosaki overgrowth syndrome, 616592
  • Premature aging syndrome, Penttinen type, 601812
  • Basal ganglia calcification, idiopathic, 4, 615007
  • Myeloproliferative disorder with eosinophilia, 131440
OMIM
173410
Clinvar variants
Variants in PDGFRB
Penetrance
None
Publications
Panels with this gene