Adult onset neurodegenerative disorder
Gene: XPR1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 6, 605237
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, OMIM:605237
Publications for gene XPR1 were changed from to 26231937; 25938945
Source Yorkshire and North East GLH was added to XPR1.
Mode of inheritance for gene: XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: xpr1 has been classified as Green List (High Evidence).
Source NHS GMS was added to XPR1.
gene: XPR1 was added gene: XPR1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH Mode of inheritance for gene: XPR1 was set to