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DDG2P

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 17 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FAMILIAL INFANTILE MYOFIBROMATOSIS, OMIM:228550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23731542). The DDG2P confidence category for the disease PREMATURE AGING SYNDROME, PENTTINEN TYPE, OMIM:601812 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26279204). The DDG2P confidence category for the disease KOSAKI OVERGROWTH SYNDROME, OMIM:616592 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 30941910;28639748;25454926;29226947;32291752).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
FAMILIAL INFANTILE MYOFIBROMATOSIS, OMIM:228550; KOSAKI OVERGROWTH SYNDROME, OMIM:616592; PREMATURE AGING SYNDROME, PENTTINEN TYPE, OMIM:601812

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: activating.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

History Filter Activity

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene PDGFRB was changed from Other - please provide details in the comments to Other Publications for gene: PDGFRB were updated from 26279204 to 30941910; 32291752; 29226947; 26279204; 28639748; 23731542; 25454926

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812 for gene: PDGFRB Publications for gene PDGFRB were changed from 23731542 to 26279204

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PDGFRB was added gene: PDGFRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 23731542 Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS 228550 Mode of pathogenicity for gene: PDGFRB was set to Other - please provide details in the comments