Parkinson Disease and Complex Parkinsonism
Gene: PDGFRB

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
Created: 22 Sep 2020, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 4, MIM# 615007

Publications

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

Created: 22 Sep 2020, 11:39 p.m.

Panel version: 1.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Basal ganglia calcification, idiopathic, 4, MIM# 615007

OMIM

173410

Clinvar variants

Variants in PDGFRB

Penetrance

None

Publications

Panels with this gene

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: 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

Parkinson Disease and Complex Parkinsonism Gene: PDGFRB