Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Parkinson Disease and Complex Parkinsonism v1.68 PDGFRB Zornitza Stark gene: PDGFRB was added
gene: PDGFRB was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to 23255827; 30979360
Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4, MIM# 615007
Review for gene: PDGFRB was set to GREEN
gene: PDGFRB was marked as current diagnostic
Added comment: Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. Presentation is with parkinsonism and impaired cognitive function.
Sources: Expert list