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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

1 review

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
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CSF1R were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CSF1R.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CSF1R. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CSF1R was added gene: CSF1R was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CSF1R was set to