XPR1:Ensemblv115

xenotropic and polytropic retrovirus receptor 1
OMIM: 605237, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green XPR1 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 6, MIM# 616413

Green XPR1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

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

Amber XPR1 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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