Neurodegenerative disorders - adult onsetGene: PDGFRB
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: PDGFRB were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 4, 615007
Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene PDGFRB were changed from to 24065723; 24796542
Source Yorkshire and North East GLH was added to PDGFRB.
Gene: pdgfrb has been classified as Green List (High Evidence).
Source NHS GMS was added to PDGFRB.
Source London North GLH was added to PDGFRB.
Rebecca Foulger: Gene awaiting curator evaluati
gene: PDGFRB was added gene: PDGFRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PDGFRB was set to Unknown Phenotypes for gene: PDGFRB were set to Dystonia