Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: CSF1R

Green List (high evidence)

CSF1R (colony stimulating factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000182578
EnsemblGeneIds (GRCh37): ENSG00000182578
OMIM: 164770, Gene2Phenotype
CSF1R is in 10 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

Caroline Wright (Genomics England Curator)

Comment on mode of inheritance: OMIM
Created: 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.

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for CSF1R was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 1

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