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  3. CSF3R
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Phagocyte Defects

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)

More than 5 unrelated families reported.
Created: 25 Jul 2021, 7:30 a.m. | Last Modified: 25 Jul 2021, 7:30 a.m.
Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 25 Jul 2021, 7:30 a.m.
Last Modified: 25 Jul 2021, 7:30 a.m.
Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
OMIM
138971
Clinvar variants
Variants in CSF3R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csf3r has been classified as Green List (High Evidence).

25 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CSF3R were changed from to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014

25 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CSF3R were set to

25 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CSF3R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSF3R was added gene: CSF3R was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CSF3R was set to Unknown