Structural basal ganglia disorders
Gene: PDGFRBEnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P for Basal ganglia calcification, idiopathic, 4 615007 . At least variants 4 reported and supporting in vitro evidence is provided in PMID 25292412Created: 16 Mar 2017, 12:20 p.m.
Manju Kurian (UCL-Institute of Child Health)
Not that many cases reported but probably enough to include?Created: 1 Mar 2017, 3:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 4 615007
- OMIM
- 173410
- Clinvar variants
- Variants in PDGFRB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- DDG2P
- Cerebellar hypoplasia
- Intracerebral calcification disorders
- Corneal abnormalities
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Corneal dystrophy
- Early onset dystonia
- Childhood solid tumours
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PDGFRB were set to 23255827; 27984190; 26129893; 25292412
Set publications
Sarah Leigh (Genomics England Curator)Publications for PDGFRB were set to 23255827
Added New Source
Sarah Leigh (Genomics England Curator)PDGFRB was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)PDGFRB was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)PDGFRB was created by sleigh