Dystonia, chorea or related movement disorder, 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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Bestter on neurodegeneration panel
Created: 9 Jul 2019, 4:25 p.m. | Last Modified: 9 Jul 2019, 4:25 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

PanelApp
Expert Review Red
London North GLH

Phenotypes

Dystonia
Basal ganglia calcification, idiopathic, 4 615007

OMIM

173410

Clinvar variants

Variants in PDGFRB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to PDGFRB. Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia; Basal ganglia calcification, idiopathic, 4 615007 for gene: PDGFRB Publications for gene PDGFRB were changed from to 27984190; 23255827; 26129893; 25292412

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PDGFRB was added gene: PDGFRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: PDGFRB was set to

Dystonia, chorea or related movement disorder, childhood onset Gene: PDGFRB