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Severe Paediatric Disorders

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

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

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

Details

Mode of Inheritance
BOTH monoallelic and 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