Adult onset dystonia, chorea or related movement disorder
Gene: PDGFBEnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Basal ganglia calcification, idiopathic, 5, OMIM:615483
- OMIM
- 190040
- Clinvar variants
- Variants in PDGFB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Intracerebral calcification disorders
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PDGFB were set to 26129893
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PDGFB.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PDGFB.
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 Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFB were set to 26129893 Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483