Early-onset Parkinson disease
Gene: PDGFB

PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 22 Sep 2020, 11:30 p.m. | Last Modified: 22 Sep 2020, 11:30 p.m.

Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

23913003

Created: 22 Sep 2020, 11:30 p.m.
Last Modified: 22 Sep 2020, 11:30 p.m.
Panel version: 0.69

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Basal ganglia calcification, idiopathic, 5, MIM# 615483

OMIM

190040

Clinvar variants

Variants in PDGFB

Penetrance

None

Publications

23913003

Panels with this gene