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IBMDx study

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported. Some reports of progression to myelodysplasia.
Sources: Expert list
Created: 2 Mar 2020, 12:58 a.m. | Last Modified: 25 Jul 2021, 7:33 a.m.
Panel Version: 1.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014

Publications

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

Created: 2 Mar 2020, 12:58 a.m.
Last Modified: 25 Jul 2021, 7:33 a.m.
Panel version: Imported from Bone Marrow Failure panel version 1.2

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
OMIM
138971
Clinvar variants
Variants in CSF3R
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSF3R was added gene: CSF3R was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: CSF3R was set to Unknown Phenotypes for gene: CSF3R were set to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014