XPR1

xenotropic and polytropic retrovirus receptor 1
OMIM: 605237, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

No list XPR1 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Basal ganglia calcification, idiopathic, 6, MIM# 616413

Green XPR1 in White matter disorders and cerebral calcification - narrow panel


Version 1.208
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6, 616413
    • Basal ganglia calcification (Fahr syndrome)

    Green XPR1 in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.22

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6 616413

    Green XPR1 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.30

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Basal ganglia calcification (Fahr syndrome)
    • Basal ganglia calcification, idiopathic, 6, 616413

    Green XPR1 in Neurodegenerative disorders - adult onset


    Version 2.201
    Latest signed off version: v2.178 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6, OMIM:605237

    Red XPR1 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.30
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Unknown
    Sources
    • Expert Review Red
    • Expert Review
    • Literature
    Phenotypes
    • Fanconi syndrome
    • hypophosphatamia

    Green XPR1 in Adult onset movement disorder


    Version 1.125
    Latest signed off version: v1.121 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6, OMIM:616413

    Red XPR1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.166
    Latest signed off version: v1.137 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6 616413

    Green XPR1 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Basal ganglia calcification, idiopathic, 6, 616413