Tumour predisposition - childhood onset

Gene: PDGFRB

Green List (high evidence)

PDGFRB (platelet derived growth factor receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27

Ellen McDonagh (Genomics England Curator)

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.

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
228550

Publications

History Filter Activity

2 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

17 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PDGFRB were set to Infantile myofibromatosis;Myofibromatosis, infantile, 1 228550

17 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 23731537;23731542

17 Feb 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PDGFRB were set to 228550;Infantile myofibromatosis

17 Feb 2017, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

PDGFRB was added to Paediatric congenital malformation-dysmorphism-tumour syndromespanel. Sources: Expert list

17 Feb 2017, Gel status: 0

Created

Richard Scott (Genomics England Curator)

PDGFRB was created by richardhywel