Structural basal ganglia 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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 5 variants reported
Created: 6 Mar 2017, 11:05 a.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal ganglia calcification, idiopathic, 5 615483
OMIM
190040
Clinvar variants
Variants in PDGFB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PDGFB were set to 26129893

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PDGFB was added to Structural basal ganglia disorderspanel. Sources: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PDGFB was created by sleigh