Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: PDGFRB

No list

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 15 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals reported.
Sources: Expert list
Created: 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

History Filter Activity

4 Jul 2020, Gel status: 0

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