Intracerebral calcification disorders
Gene: XPR1Comment on list classification: Expert green review, and 3 family/case reports.Created: 7 Dec 2016, 11:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
basal ganglia calcification (Fahr syndrome)
Publications
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
Phenotypes for XPR1 were set to Basal ganglia calcification (Fahr syndrome); Basal ganglia calcification, idiopathic, 6, 616413
This gene has been classified as Green List (High Evidence).
Publications for XPR1 were set to 25938945; 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
Publications for XPR1 were set to 25938945; 27230854 - report of a novel variant in a 41-year olf man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction
Publications for XPR1 were set to 25938945;27230854
This proposed gene was validated and added to this panel
XPR1 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
XPR1 was created by Yanickcrow
XPR1 was added to Intracerebral calcification disorderspanel. Sources: Literature