Childhood onset dystonia, chorea or related movement disorder
Gene: PDGFB

PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483). No phenotype has been associated with PDGFB in Gen2Phen. Although the age of onset for OMIM:615483 is in adulthood, PMID: 23913003 reports four unrelated cases where the age of onset is listed as childhood or 10 years of age.
Created: 22 Aug 2023, 3:05 p.m. | Last Modified: 22 Aug 2023, 3:05 p.m.

Panel Version: 3.48

Created: 22 Aug 2023, 1:19 p.m.
Last Modified: 22 Aug 2023, 1:19 p.m.
Panel version: 3.48

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Typically adult onset.
Created: 6 Sep 2020, 9:52 a.m. | Last Modified: 6 Sep 2020, 9:52 a.m.

Panel Version: 1.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 4 615007

Created: 6 Sep 2020, 9:52 a.m.
Last Modified: 6 Sep 2020, 9:52 a.m.
Panel version: 1.49

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

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 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 Green
London North GLH

Phenotypes

Basal ganglia calcification, idiopathic, 5, OMIM:615483
basal ganglia calcification, idiopathic, 5, MONDO:0014204

OMIM

190040

Clinvar variants

Variants in PDGFB

Penetrance

None

Publications

Panels with this gene