Childhood solid tumours
Gene: PDGFRB
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
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
228550
Publications
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
This gene has been classified as Green List (High Evidence).
Phenotypes for PDGFRB were set to Infantile myofibromatosis;Myofibromatosis, infantile, 1 228550
This gene has been classified as Green List (High Evidence).
Publications for PDGFRB were set to 23731537;23731542
Phenotypes for PDGFRB were set to 228550;Infantile myofibromatosis
PDGFRB was added to Paediatric congenital malformation-dysmorphism-tumour syndromespanel. Sources: Expert list
PDGFRB was created by richardhywel