Adult onset neurodegenerative disorder
Gene: PDGFRB
Not fully penetrant.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 4, 615007
Publications
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; Basal ganglia calcification, idiopathic, 4, 615007 to Dystonia; Basal ganglia calcification, idiopathic, 4, OMIM:615007
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