White matter disorders and cerebral calcification - narrow panel
Gene: PDGFRBEnsemblGeneIds (GRCh38): ENSG00000113721
EnsemblGeneIds (GRCh37): ENSG00000113721
OMIM: 173410, Gene2Phenotype
PDGFRB is in 17 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Cases in support of an already green gene: Genetic analysis of patients reported with primary familial brain calcification (PFBC) and their families by Lenglez et al (2022) identified 13 heterozygous missense variants in PDGFRB gene. These include two novel variants that were not reported before. In addition, authors combined clinical, genetic and molecular analysis data and reported nine variants as (likely) pathogenic, three as (likely) benign and one as a variant of unknown significance.Created: 12 Dec 2022, 10:52 p.m. | Last Modified: 12 Dec 2022, 10:52 p.m.
Panel Version: 2.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 4, MIM# 615007, MONDO:0014004
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fahr syndrome
- Calcifications in basal ganglia
- Basal ganglia calcification idiopathic 4, 615007
- OMIM
- 173410
- Clinvar variants
- Variants in PDGFRB
- Penetrance
- None
- Publications
-
- 23255827 - original family report and sproadic case report
- 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation
- 25292412 - functional studies
- 26599395 - mouse models and functional studies
- 26129893
- 34494111
- 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
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PDGFRB were set to 23255827 - original family report and sproadic case report; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation; 25292412 - functional studies; 26599395 - mouse models and functional studies; 26129893
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PDGFRB was added gene: PDGFRB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 23255827 - original family report and sproadic case report; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation; 25292412 - functional studies; 26599395 - mouse models and functional studies; 26129893 Phenotypes for gene: PDGFRB were set to Fahr syndrome; Calcifications in basal ganglia; Basal ganglia calcification idiopathic 4, 615007