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Research panel - Severe Paediatric Disorders

Gene: PDGFB

Green List (high evidence)
PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PDGFB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Basal ganglia calcification, idiopathic, 5, 615483 (3) | Dermatofibrosarcoma protuberans, 607907 (3) | Meningioma, SIS-related, 607174 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Meningioma, SIS-related, 607174
  • Basal ganglia calcification, idiopathic, 5, 615483
  • Dermatofibrosarcoma protuberans, 607907
OMIM
190040
Clinvar variants
Variants in PDGFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PDGFB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PDGFB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Meningioma, SIS-related, 607174; Dermatofibrosarcoma protuberans, 607907; Basal ganglia calcification, idiopathic, 5, 615483 for gene: PDGFB

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to PDGFB.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PDGFB. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PDGFB was added gene: PDGFB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PDGFB was set to