Structural basal ganglia disorders
Gene: XPR1
XPR1 (xenotropic and polytropic retrovirus receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 4 variants reportedCreated: 6 Mar 2017, 11:36 a.m.
Manju Kurian (UCL-Institute of Child Health)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 6 616413
- OMIM
- 605237
- Clinvar variants
- Variants in XPR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal tubulopathies
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Neurodegenerative disorders, adult onset
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for XPR1 were set to 25938945
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)XPR1 was created by sleigh
7 Sep 2016, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)XPR1 was added to Structural basal ganglia disorderspanel. Sources: Other