Childhood onset dystonia, chorea or related movement disorder
Gene: XPR1

XPR1 (xenotropic and polytropic retrovirus receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 8 panels

1 review

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

Red List (low evidence)

Suggested by Huw and Raquel - adult onset
Created: 9 Jul 2019, 4:25 p.m. | Last Modified: 9 Jul 2019, 4:25 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

PanelApp
Expert Review Red
London North GLH

Phenotypes

Basal ganglia calcification, idiopathic, 6 616413

OMIM

605237

Clinvar variants

Variants in XPR1

Penetrance

None

Publications

25938945

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to XPR1. Mode of inheritance for gene XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Basal ganglia calcification, idiopathic, 6 616413 for gene: XPR1 Publications for gene XPR1 were changed from to 25938945

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: XPR1 was added gene: XPR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: XPR1 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: XPR1