Intracerebral calcification disorders
Gene: PDGFBEnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and number of new cases/families reported in PMID: 26129893, providing a total of reports for 7 families/cases.Created: 29 Nov 2016, 10:27 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
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 5, 615483
- Fahr syndrome
- OMIM
- 190040
- Clinvar variants
- Variants in PDGFB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
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.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFB were set to 27227165 - c.3G>C variant identified in 5 affected members of a family; 26129893; 25211641
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PDGFB were set to Basal ganglia calcification, idiopathic, 5, 615483; Fahr syndrome
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 PDGFB were set to 27227165 - c.3G>C variant identified in 5 affected members of a family;26129893
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PDGFB were set to 27227165 - c.3G>C variant identified in 5 affected members of a family.
Added New Source
Olivia Niblock (Genomics England Curator)PDGFB was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PDGFB was added to Intracerebral calcification disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)PDGFB was created by ellenmcdonagh