Genes in panel

Neurodegenerative disorders - adult onset

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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Basal ganglia calcification, idiopathic, 6, 605237

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
OMIM
605237
Clinvar variants
Variants in XPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene XPR1 were changed from to 26231937; 25938945

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to XPR1.

3 Jun 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: xpr1 has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to XPR1.

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: XPR1 was added gene: XPR1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH Mode of inheritance for gene: XPR1 was set to