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Dystonia - complex

Gene: PDGFB

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Disease characterised by calcifications predominantly affecting the basal ganglia of the brain however can affect other areas of the brain as well. Affected individuals report abnormal motor symptoms and psychiatric manifestations.

PMID: 36690225 - 24yr with brain calcification and neuropsychiatric symptoms. The affected individual also presented with chorea and dystonia.
A novel homozygous Ser305del variant was identified.

PMID: 34736156 - three unrelated individuals reported across different publications with brain calcification shown on brain imaging along with paroxysmal dystonia.
Created: 10 Dec 2024, 4:25 a.m. | Last Modified: 10 Dec 2024, 4:26 a.m.
Panel Version: 0.271

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary familial brain calcifications; basal ganglia calcification, idiopathic, 5 MONDO:0014204

Publications

Created: 10 Dec 2024, 4:25 a.m.
Last Modified: 10 Dec 2024, 4:26 a.m.
Panel version: 0.270

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Basal ganglia calcification, idiopathic, 5 615483
OMIM
190040
Clinvar variants
Variants in PDGFB
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PDGFB was added gene: PDGFB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483