Research panel - Severe Paediatric Disorders
Gene: CSF1R

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

The autosomal dominant condition has onset in adulthood and therefore variants in this gene should probably only be tiered for the recessive disorder if included on the paediatric panel to avoid incidental findings.
Created: 23 Nov 2023, 2:19 p.m. | Last Modified: 23 Nov 2023, 2:19 p.m.

Panel Version: 1.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Nov 2023, 2:19 p.m.
Last Modified: 23 Nov 2023, 2:19 p.m.
Panel version: 1.176

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CSF1R; Recommended initial gene rating: Green List (high evidence); Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 (3) | Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476

OMIM

164770

Clinvar variants

Variants in CSF1R

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

10 Oct 2024, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CSF1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

21 Feb 2020, Gel status: 3