Dystonia - childhood 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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Basal ganglia calcification, idiopathic, 6 616413
OMIM
605237
Clinvar variants
Variants in XPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: XPR1 was added gene: XPR1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: XPR1 were set to 25938945 Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6 616413