White matter disorders and cerebral calcification - narrow panel
Gene: XPR1EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 8 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 6, 616413
- Basal ganglia calcification (Fahr syndrome)
- OMIM
- 605237
- Clinvar variants
- Variants in XPR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Intracerebral calcification disorders
- Adult onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
History Filter Activity
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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: XPR1 was added gene: XPR1 was added to White matter disorders and cerebral calcification - narrow panel. 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 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; 25938945 Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6, 616413; Basal ganglia calcification (Fahr syndrome)