Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: PDGFRBEnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 16 Apr 2021, 3:33 p.m. | Last Modified: 16 Apr 2021, 3:33 p.m.
Panel Version: 1.112
Zornitza Stark (Australian Genomics)
Multiple affected individuals reported.
Sources: Expert listCreated: 4 Jul 2020, 3:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kosaki overgrowth syndrome, MIM# 616592
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Kosaki overgrowth syndrome, OMIM:616592
- OMIM
- 173410
- Clinvar variants
- Variants in PDGFRB
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pdgfrb has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PDGFRB were changed from Kosaki overgrowth syndrome, MIM# 616592 to Kosaki overgrowth syndrome, OMIM:616592
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: PDGFRB was added gene: PDGFRB was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to 25454926; 32291752; 30941910; 29226947 Phenotypes for gene: PDGFRB were set to Kosaki overgrowth syndrome, MIM# 616592 Review for gene: PDGFRB was set to GREEN gene: PDGFRB was marked as current diagnostic