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  2. Leukodystrophy - adult onset
  3. CSF1R
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Leukodystrophy - adult onset

Gene: CSF1R

Green List (high evidence)
CSF1R (colony stimulating factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000182578
EnsemblGeneIds (GRCh37): ENSG00000182578
OMIM: 164770, Gene2Phenotype
CSF1R is in 11 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-establish gene with leukodystrophy features.
Created: 8 Sep 2023, 1:31 a.m. | Last Modified: 8 Sep 2023, 1:31 a.m.
Panel Version: 0.109

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:0032772

Publications

Created: 8 Sep 2023, 1:31 a.m.
Last Modified: 8 Sep 2023, 1:31 a.m.
Panel version: 0.109

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
OMIM
164770
Clinvar variants
Variants in CSF1R
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CSF1R was added gene: CSF1R was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids, 221820