Parkinson Disease and Complex Parkinsonism

Gene: PDGFB

No list

PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Progressive disorder characterised by neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. More than 10 families reported.
Sources: Expert list
Created: 22 Sep 2020, 11:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 5, MIM# 615483

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

22 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PDGFB was added gene: PDGFB was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFB were set to 23913003 Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5, MIM# 615483 Review for gene: PDGFB was set to GREEN gene: PDGFB was marked as current diagnostic