This Panel is marked as Internal
Dystonia - childhood onset
Gene: PDGFB
PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 5 615483
- OMIM
- 190040
- Clinvar variants
- Variants in PDGFB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PDGFB was added gene: PDGFB was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFB were set to 26129893 Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483