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  3. PDGFRB
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Overgrowth

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple affected individuals reported.
Created: 4 Jul 2020, 3:26 a.m. | Last Modified: 4 Jul 2020, 3:26 a.m.
Panel Version: 0.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kosaki overgrowth syndrome, MIM# 616592

Publications

Created: 4 Jul 2020, 3:26 a.m.
Last Modified: 4 Jul 2020, 3:26 a.m.
Panel version: 0.36

History Filter Activity

4 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdgfrb has been classified as Green List (High Evidence).

4 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDGFRB were changed from to Kosaki overgrowth syndrome, MIM# 616592

4 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDGFRB were set to

4 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDGFRB was added gene: PDGFRB was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDGFRB was set to Unknown