Neurodegenerative disorders - adult onsetGene: XPR1
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