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  3. XPR1
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Paroxysmal Dyskinesia

Gene: XPR1

Amber List (moderate evidence)
XPR1 (xenotropic and polytropic retrovirus receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 5 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

I don't know

Sources: Literature
Created: 15 Sep 2023, 5:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE

Publications

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

Created: 15 Sep 2023, 5:07 a.m.

Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Basal ganglia calcification, idiopathic, 6, MIM# 616413
  • brain calcification
  • basal ganglia calcification
  • paroxysmal dyskinesia
  • epilepsy
  • DEE
OMIM
605237
Clinvar variants
Variants in XPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpr1 has been classified as Amber List (Moderate Evidence).

18 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: XPR1 were changed from brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE to Basal ganglia calcification, idiopathic, 6, MIM# 616413; brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: xpr1 has been classified as Amber List (Moderate Evidence).

15 Sep 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: XPR1 was added gene: XPR1 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: XPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPR1 were set to 33433330 Phenotypes for gene: XPR1 were set to brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE Review for gene: XPR1 was set to AMBER gene: XPR1 was marked as current diagnostic