Adult onset dystonia, chorea or related movement disorder
Gene: CSF1REnsemblGeneIds (GRCh38): ENSG00000182578
EnsemblGeneIds (GRCh37): ENSG00000182578
OMIM: 164770, Gene2Phenotype
CSF1R is in 10 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, imprinted status unknown
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
- OMIM
- 164770
- Clinvar variants
- Variants in CSF1R
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Adult onset leukodystrophy
- DDG2P
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CSF1R were set to 23787135
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CSF1R were changed from dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CSF1R.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CSF1R.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CSF1R was added gene: CSF1R was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF1R were set to 23787135 Phenotypes for gene: CSF1R were set to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids