Parkinson Disease and Complex Parkinsonism
Gene: XPR1EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 8 panels
1 review
Zornitza Stark (Australian Genomics)
Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterised by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions. At least 5 unrelated families reported.
Sources: Expert listCreated: 23 Sep 2020, 1:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 6, MIM# 616413
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 6, MIM# 616413
- OMIM
- 605237
- Clinvar variants
- Variants in XPR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Intracerebral calcification disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: XPR1 was added gene: XPR1 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list 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, MIM# 616413 Review for gene: XPR1 was set to GREEN gene: XPR1 was marked as current diagnostic