Parkinson Disease and Complex Parkinsonism
Gene: PDGFB
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
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
Publications for gene: PDGFB were set to 23913003
Gene: pdgfb has been classified as Green List (High Evidence).
Gene: pdgfb has been classified as Amber List (Moderate Evidence).
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
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