Adult onset neurodegenerative disorder
Gene: PDGFB
Mean age at onset 23.9 years (range 10 to 55 years)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, 5 615483
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: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Publications for gene PDGFB were changed from to 29955172; 23913003
Source Yorkshire and North East GLH was added to PDGFB.
Mode of inheritance for gene: PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: pdgfb has been classified as Green List (High Evidence).
Source NHS GMS was added to PDGFB.
gene: PDGFB was added gene: PDGFB was added to Neurodegenerative disorders - adult onset. Sources: London North GLH Mode of inheritance for gene: PDGFB was set to