This Panel is marked as Internal
Dystonia - childhood onset
Gene: PDGFRB
PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 4 615007
- Dystonia
- OMIM
- 173410
- Clinvar variants
- Variants in PDGFRB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- Cerebellar hypoplasia
- Adult onset neurodegenerative disorder
- Corneal abnormalities
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Childhood solid tumours
- Intellectual disability
- Parkinson Disease and Complex Parkinsonism
- Corneal dystrophy
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- 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: PDGFRB was added gene: PDGFRB was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to 27984190; 23255827; 26129893; 25292412 Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4 615007; Dystonia