Childhood solid tumours
Gene: PDGFRBEnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green on the Version 1.6 panel due to expert review and more than 3 unrelated families/cases reported. Two different variants have been reported.Created: 17 Feb 2017, 12:55 p.m.
Richard Scott (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
228550
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Infantile myofibromatosis
- Myofibromatosis, infantile, 1 228550
- Myofibromatosis, infantile, 1 228550
- 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
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PDGFRB. Mode of inheritance for gene PDGFRB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Infantile myofibromatosis; Myofibromatosis, infantile, 1 228550 for gene: PDGFRB Publications for gene PDGFRB were changed from 23731537; 23731542 to 23731542; 23731537
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PDGFRB were set to Infantile myofibromatosis;Myofibromatosis, infantile, 1 228550
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFRB were set to 23731537;23731542
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PDGFRB were set to 228550;Infantile myofibromatosis
Added New Source
Richard Scott (Genomics England Curator)PDGFRB was added to Paediatric congenital malformation-dysmorphism-tumour syndromespanel. Sources: Expert list
Created
Richard Scott (Genomics England Curator)PDGFRB was created by richardhywel