Inherited white matter disorders
Gene: CSF1REnsemblGeneIds (GRCh38): ENSG00000182578
EnsemblGeneIds (GRCh37): ENSG00000182578
OMIM: 164770, Gene2Phenotype
CSF1R is in 10 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: MOI was updated from 'Monoallelic' to 'Both mono- and biallelic'. CSF1R is associated with two relevant disorders both including white matter abnormalities - one of which shows biallelic inheritance (Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476) while the other is associated with monoallelic inheritance (Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820)Created: 2 Nov 2021, 4:10 p.m. | Last Modified: 2 Nov 2021, 4:10 p.m.
Panel Version: 1.143
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. Multiple families/cases and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 8 Aug 2016, 9:09 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
- Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476
- Tags
- OMIM
- 164770
- Clinvar variants
- Variants in CSF1R
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset neurodegenerative disorder
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Parkinson Disease and Complex Parkinsonism
- Adult onset leukodystrophy
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CSF1R were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CSF1R was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CSF1R were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)CSF1R was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)CSF1R was created by [email protected]