Structural basal ganglia disorders

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 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P for Basal ganglia calcification, idiopathic, 4 615007 . At least variants 4 reported and supporting in vitro evidence is provided in PMID 25292412
Created: 16 Mar 2017, 12:20 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Not that many cases reported but probably enough to include?
Created: 1 Mar 2017, 3:08 p.m.

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

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

16 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).

16 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).

16 Mar 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PDGFRB were set to 23255827; 27984190; 26129893; 25292412

16 Mar 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PDGFRB were set to 23255827

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PDGFRB was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PDGFRB was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PDGFRB was created by sleigh