PanelApp (test)
  1. Genes and Genomic Entities
  2. PDGFB

PDGFB

platelet derived growth factor subunit B
OMIM: 190040, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PDGFB in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 5, MIM# 615483

    Green PDGFB in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.96

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 5 , MIM#615483

    Green PDGFB in Mendeliome


    Version 1.1902

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 5 , MIM#615483

    Green PDGFB in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red PDGFB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Basal ganglia calcification, idiopathic, 5, MIM#615483

    Green PDGFB in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Basal ganglia calcification, idiopathic, 5, MIM# 615483
    • Paroxysmal nonkinesigenic dyskinesia
    • paroxysmal kinesigenic dyskinesia
    • Brain calcification

    Green PDGFB in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Basal ganglia calcification, idiopathic, 5 615483