Structural basal ganglia disorders

Gene: XPR1

Green List (high evidence)

XPR1 (xenotropic and polytropic retrovirus receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 4 variants reported
Created: 6 Mar 2017, 11:36 a.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Basal ganglia calcification, idiopathic, 6 616413
OMIM
605237
Clinvar variants
Variants in XPR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for XPR1 were set to 25938945

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

XPR1 was created by sleigh

7 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

XPR1 was added to Structural basal ganglia disorderspanel. Sources: Other