This Panel is marked as Retired
Multiple Tumours
Gene: PDGFRB
PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
1 review
Ellen McDonagh (Genomics England Curator)
Added this gene - is green on the Paediatric congenital malformation-dysmorphism-tumour syndrome (Version 1.12) gene panel.Created: 3 May 2017, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Infantile myofibromatosis; Myofibromatosis, infantile, 1 228550
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Infantile myofibromatosis
- Myofibromatosis, infantile, 1 228550
- OMIM
- 173410
- Clinvar variants
- Variants in PDGFRB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Cerebellar hypoplasia
- Intracerebral calcification disorders
- Fetal anomalies
- Corneal abnormalities
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Corneal dystrophy
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Childhood solid tumours
- Neurodegenerative disorders, adult onset
- Multiple monogenic benign skin tumours
- DDG2P
History Filter Activity
3 May 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
3 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PDGFRB was created by ellenmcdonagh
3 May 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PDGFRB was added to Multiple Tumourspanel. Sources: Other