Childhood onset dystonia, chorea or related movement disorder
Gene: PDGFB
PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483). No phenotype has been associated with PDGFB in Gen2Phen. Although the age of onset for OMIM:615483 is in adulthood, PMID: 23913003 reports four unrelated cases where the age of onset is listed as childhood or 10 years of age.Created: 22 Aug 2023, 3:05 p.m. | Last Modified: 22 Aug 2023, 3:05 p.m.
Panel Version: 3.48
Typically adult onset.Created: 6 Sep 2020, 9:52 a.m. | Last Modified: 6 Sep 2020, 9:52 a.m.
Panel Version: 1.49
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 4 615007
Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, OMIM:615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204
Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140; 35747618
Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140
Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Publications for gene: PDGFB were set to 26129893
Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5 615483 to Basal ganglia calcification, idiopathic, 5, 615483
Source PanelApp was added to PDGFB. Mode of inheritance for gene PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Basal ganglia calcification, idiopathic, 5 615483 for gene: PDGFB Publications for gene PDGFB were changed from to 26129893
gene: PDGFB was added gene: PDGFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDGFB was set to