Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: PDGFRBComment 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
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
Gene: pdgfrb has been classified as Green List (High Evidence).
Phenotypes for gene: PDGFRB were changed from Kosaki overgrowth syndrome, MIM# 616592 to Kosaki overgrowth syndrome, OMIM:616592
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