Intellectual disability Victorian Clinical Genetics Services
Gene: PDGFRB

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels

0 reviews

Details

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

173410

Clinvar variants

Variants in PDGFRB

Penetrance

None

Panels with this gene

Parkinson Disease and Complex Parkinsonism
Adult onset dystonia, chorea or related movement disorder
Corneal dystrophy
Multiple monogenic benign skin tumours
Structural basal ganglia disorders
Cerebellar hypoplasia
Intracerebral calcification disorders
White matter disorders and cerebral calcification - narrow panel
Fetal anomalies
DDG2P
Childhood onset dystonia, chorea or related movement disorder
Corneal abnormalities
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Early onset dystonia
Adult onset neurodegenerative disorder
Childhood solid tumours
Intellectual disability

History Filter Activity

12 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PDGFRB was added to Intellectual disability Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services