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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.112 | PDGFRB | Ivone Leong Classified gene: PDGFRB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.112 | PDGFRB | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.112 | PDGFRB | Ivone Leong Gene: pdgfrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.111 | PDGFRB | Ivone Leong Phenotypes for gene: PDGFRB were changed from Kosaki overgrowth syndrome, MIM# 616592 to Kosaki overgrowth syndrome, OMIM:616592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | PDGFRB |
Zornitza Stark 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 Added comment: Multiple affected individuals reported. Sources: Expert list |
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