Early-onset Parkinson disease
Gene: CSF1R

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Parkinsonian signs can be a feature on the condition
Created: 16 Feb 2024, 9:29 a.m. | Last Modified: 16 Feb 2024, 9:29 a.m.

Panel Version: 0.276

Created: 16 Feb 2024, 9:29 a.m.
Last Modified: 16 Feb 2024, 9:29 a.m.
Panel version: 0.276

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

25935893:
- Case 2, 4 and 5 with phenotype
Created: 25 Aug 2023, 12:23 a.m. | Last Modified: 25 Aug 2023, 12:23 a.m.

Panel Version: 0.243

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia MONDO:0009096

Publications

Created: 25 Aug 2023, 12:23 a.m.
Last Modified: 25 Aug 2023, 12:23 a.m.
Panel version: 0.243

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027

OMIM

164770

Clinvar variants

Variants in CSF1R

Penetrance

None

Publications

Panels with this gene