Intracerebral calcification 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 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green. PMID: 26129893 reports one family and a sporadic presentation with variants that were reported in PMID: 23255827, and it is unclear whether these are the same patients as the authors of the two publications are the same. In total, seems to be three different variants reported for 3 unrelated cases/families, with functional evidence to support the association.
Created: 29 Nov 2016, 11:19 a.m.
Comment on list classification: Found in 2/4 original sources. 1 family and 1 case with Basal ganglia calcification, idiopathic, 4 reported in OMIM for two different missense variants from one publication (PMID: 23255827).
Created: 9 Sep 2016, 10:30 a.m.

Yanick Crow (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
basal ganglia calcification (Fahr syndrome)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Basal ganglia calcification idiopathic 4, 615007
  • Calcifications in basal ganglia
  • Fahr syndrome
OMIM
173410
Clinvar variants
Variants in PDGFRB
Penetrance
Complete
Publications
  • 23255827 - original family report and sproadic case report
  • 26129893
  • 26599395 - mouse models and functional studies
  • 25292412 - functional studies
  • 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Nov 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 23255827 - original family report and sproadic case report;26129893; 26599395 - mouse models and functional studies; 25292412 - functional studies; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation

29 Nov 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies; 25292412 - functional studies; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation

29 Nov 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies; 25292412 - functional studies

29 Nov 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies

29 Nov 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies

29 Nov 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PDGFRB were set to Basal ganglia calcification idiopathic 4, 615007; Calcifications in basal ganglia;Fahr syndrome

29 Nov 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PDGFRB were set to Basal ganglia calcification idiopathic 4, 615007; Calcifications in basal ganglia

29 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Nov 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 26129893; 26599395 - mouse models

29 Nov 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 26129893; 26599395 - mouse models; 27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes

9 Sep 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDGFRB were set to 26129893;26599395 - mouse models

9 Sep 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Aug 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

PDGFRB was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

PDGFRB was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen

10 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PDGFRB was created by ellenmcdonagh

10 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PDGFRB was added to Intracerebral calcification disorderspanel. Sources: Expert list