Parkinson Disease and Complex Parkinsonism
Gene: PDGFBEnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483), which includes Parkinsonism. No phenotype has been associated with PDGFB in Gen2Phen. PMID: 23913003 reports three unrelated cases of OMIM:615483 who have Parkinsonism, and PMID: 35747618 notes Parkinsonism in the proband's paternal grandmother and great grandmother, however, no genetic analysis was possible for these deceased family members.Created: 22 Aug 2023, 2:56 p.m. | Last Modified: 22 Aug 2023, 2:56 p.m.
Panel Version: 1.118
Zornitza Stark (Australian Genomics)
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 listCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 5, OMIM:615483
- basal ganglia calcification, idiopathic, 5, MONDO:0014204
- OMIM
- 190040
- Clinvar variants
- Variants in PDGFB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PDGFB were set to 23913003
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pdgfb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pdgfb has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, MIM# 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204
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