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Severe Paediatric Disorders

Gene: CSF3R

Green List (high evidence)

CSF3R (colony stimulating factor 3 receptor)
EnsemblGeneIds (GRCh38): ENSG00000119535
EnsemblGeneIds (GRCh37): ENSG00000119535
OMIM: 138971, Gene2Phenotype
CSF3R is in 6 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: CSF3R; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3); Mode of inheritance: Autosomal recessive
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
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014
OMIM
138971
Clinvar variants
Variants in CSF3R
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 CSF3R was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CSF3R were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014 for gene: CSF3R

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014 for gene: CSF3R

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014 for gene: CSF3R

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neutropenia, severe congenital, 7, autosomal recessive, 617014 for gene: CSF3R

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CSF3R.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CSF3R. 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: CSF3R was added gene: CSF3R was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CSF3R was set to