Early-onset Parkinson disease
Gene: PDGFRBEnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function.Created: 22 Sep 2020, 11:36 p.m. | Last Modified: 22 Sep 2020, 11:36 p.m.
Panel Version: 0.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 4 615007
Publications
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, 4, MIM# 615007
- OMIM
- 173410
- Clinvar variants
- Variants in PDGFRB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Incidentalome_PREGEN_DRAFT
- Dystonia - complex
- Mendeliome
- Brain Calcification
- Aortopathy_Connective Tissue Disorders
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
- Early-onset Parkinson disease
- Vascular Malformations_Germline
- Overgrowth
- Macrocephaly_Megalencephaly
- Stroke
- Regression
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pdgfrb has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PDGFRB were changed from to Basal ganglia calcification, idiopathic, 4, MIM# 615007
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PDGFRB were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PDGFRB was added gene: PDGFRB was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PDGFRB was set to Unknown