Adult onset neurodegenerative disorder
Gene: PDGFRBEnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Not fully penetrant.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 4, 615007
Publications
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Dystonia
- Basal ganglia calcification, idiopathic, 4, OMIM:615007
- OMIM
- 173410
- Clinvar variants
- Variants in PDGFRB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Intracerebral calcification disorders
- Multiple monogenic benign skin tumours
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- DDG2P
- Parkinson Disease and Complex Parkinsonism
- Corneal dystrophy
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PDGFRB were changed from Dystonia; Basal ganglia calcification, idiopathic, 4, 615007 to Dystonia; Basal ganglia calcification, idiopathic, 4, OMIM:615007
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PDGFRB were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 4, 615007
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene PDGFRB were changed from to 24065723; 24796542
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PDGFRB.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: pdgfrb has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PDGFRB.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PDGFRB.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PDGFRB was added gene: PDGFRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PDGFRB was set to Unknown Phenotypes for gene: PDGFRB were set to Dystonia