PanelApp (stage)
  1. Genes and Genomic Entities
  2. XPR1

XPR1

xenotropic and polytropic retrovirus receptor 1
OMIM: 605237, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green XPR1 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, 6, MIM# 616413

    Green XPR1 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, 6, MIM# 616413

    Green XPR1 in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6, MIM# 616413

    Amber XPR1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6 MIM#616413

    Amber XPR1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6, MIM# 616413
    • brain calcification
    • basal ganglia calcification
    • paroxysmal dyskinesia
    • epilepsy
    • DEE