White matter disorders and cerebral calcification - childhood onset
Gene: PDGFB
PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fahr syndrome
- Basal ganglia calcification, idiopathic, 5, 615483
- OMIM
- 190040
- Clinvar variants
- Variants in PDGFB
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Neurodegenerative disorders, adult onset
- Dystonia, chorea or related movement disorder, adult onset
- Intellectual disability
History Filter Activity
8 Jan 2019, Gel status: 4
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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PDGFB was added gene: PDGFB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFB were set to 26129893; 25211641; 27227165 - c.3G>C variant identified in 5 affected members of a family Phenotypes for gene: PDGFB were set to Fahr syndrome; Basal ganglia calcification, idiopathic, 5, 615483