Intracerebral calcification disorders
Gene: PDGFRBEnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 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)
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
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Multiple monogenic benign skin tumours
- DDG2P
- Cerebellar hypoplasia
- Intracerebral calcification disorders
- Intellectual disability
- Corneal abnormalities
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Corneal dystrophy
- Early onset dystonia
- Childhood solid tumours
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies; 25292412 - functional studies
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFRB were set to 26129893; 26599395 - mouse models and functional studies
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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PDGFRB were set to Basal ganglia calcification idiopathic 4, 615007; Calcifications in basal ganglia
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFRB were set to 26129893; 26599395 - mouse models
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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFRB were set to 26129893;26599395 - mouse models
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)PDGFRB was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Olivia Niblock (Genomics England Curator)PDGFRB was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)PDGFRB was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PDGFRB was added to Intracerebral calcification disorderspanel. Sources: Expert list