1. Panels
  2. Intracerebral calcification disorders
  3. XPR1
STRs in panel
Prev Next
Regions in panel
Prev Next

Intracerebral calcification 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 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert green review, and 3 family/case reports.
Created: 7 Dec 2016, 11:39 a.m.
Created: 7 Dec 2016, 11:39 a.m.

Panel version: 0.120

Yanick Crow (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
basal ganglia calcification (Fahr syndrome)

Publications

Created: 11 Feb 2016, 7:39 p.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal ganglia calcification (Fahr syndrome)
  • Basal ganglia calcification, idiopathic, 6, 616413
OMIM
605237
Clinvar variants
Variants in XPR1
Penetrance
Complete
Publications
  • 25938945
  • 27230854 - report of a novel variant in a 41-year old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

7 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for XPR1 were set to Basal ganglia calcification (Fahr syndrome); Basal ganglia calcification, idiopathic, 6, 616413

7 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Dec 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for XPR1 were set to 25938945; 27230854 - report of a novel variant in a 41-year old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction

9 Sep 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for XPR1 were set to 25938945; 27230854 - report of a novel variant in a 41-year olf man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction

9 Sep 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for XPR1 were set to 25938945;27230854

25 Aug 2016, Gel status: 1

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 Aug 2016, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

XPR1 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen

11 Feb 2016, Gel status: 0

Created

Yanick Crow (University of Manchester)

XPR1 was created by Yanickcrow

11 Feb 2016, Gel status: 0

Added New Source

Yanick Crow (University of Manchester)

XPR1 was added to Intracerebral calcification disorderspanel. Sources: Literature