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  3. CSF3R
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Anaemias and red cell disorders

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe congenital neutropenia

Publications

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

Created: 16 Jan 2017, 3:45 p.m.

Panel version: 0.9

Details

Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Severe congenital neutropenic
  • Neutrophilia, hereditary, 162830
OMIM
138971
Clinvar variants
Variants in CSF3R
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CSF3R was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CSF3R was added to Anaemias and red cell disorderspanel. Sources: Expert list

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CSF3R was created by ellenmcdonagh