Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: CSF1REnsemblGeneIds (GRCh38): ENSG00000182578
EnsemblGeneIds (GRCh37): ENSG00000182578
OMIM: 164770, Gene2Phenotype
CSF1R is in 10 panels
2 reviews
simon mead (UCL)
Caroline Wright (Genomics England Curator)
Comment on mode of inheritance: OMIMCreated: 10 May 2016, 12:49 p.m.
Comment on list classification: Lots of variants in ClinVar for Leukoencephalopathy, diffuse hereditary, with spheroids; death from dementia common within 6 years (OMIM)Created: 10 May 2016, 12:48 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
- Dementia
- Tags
- OMIM
- 164770
- Clinvar variants
- Variants in CSF1R
- Penetrance
- Complete
- 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
- Intellectual disability
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Adult onset leukodystrophy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CSF1R were changed from Dementia to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820; Dementia
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for CSF1R was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CSF1R was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: UKGTN