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  2. Congenital neutropaenia
  3. CSF3R
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Congenital neutropaenia

Gene: CSF3R

Red List (low evidence)
CSF3R (colony stimulating factor 3 receptor)
EnsemblGeneIds (GRCh38): ENSG00000119535
EnsemblGeneIds (GRCh37): ENSG00000119535
OMIM: 138971, Gene2Phenotype
CSF3R is in 6 panels

3 reviews

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: One expert reviewer suggested green and one red because germline variants in this gene associated with neurtophilia and not neutropenia. Associated with neurtophilia in OMIM. No disease association in G2P, and only found in 1/4 sources
Created: 24 May 2016, 8:03 p.m.
Created: 24 May 2016, 8:03 p.m.

Panel version: 0.26

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Somatic mutations of this gene often occur following GCSF therapy for severe congenital neutropenia of alternative aetiology, but germline mutations of CSF3R are associated with neutrophilia rather than neutropenia
Created: 19 Oct 2015, 10:35 p.m.
Created: 19 Oct 2015, 10:35 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutrophilia, hereditary, 162830
  • Severe congenital neutropenic
OMIM
138971
Clinvar variants
Variants in CSF3R
Penetrance
Complete
Panels with this gene

History Filter Activity

25 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CSF3R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CSF3R were set to Neutrophilia, hereditary, 162830;Severe congenital neutropenic

24 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CSF3R was added to Congenital neutropaeniapanel. Source: Expert list

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CSF3R was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CSF3R was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen