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STRs in panel
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COVID-19 research

Gene: CSF2RB

Green List (high evidence)

CSF2RB (colony stimulating factor 2 receptor beta common subunit)
EnsemblGeneIds (GRCh38): ENSG00000100368
EnsemblGeneIds (GRCh37): ENSG00000100368
OMIM: 138981, Gene2Phenotype
CSF2RB is in 5 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CSF2RB .PanelApp HGNC gene symbol check: CSF2RB . IUIS Disease: Congenital pulmonary alveolar proteinosis due to CSF2RB mutations . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Alveolar macrophages. IUIS Associated features: Alveolar proteinosis. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Other Non-Lymphoid Defects
Created: 6 Jul 2018, 12:11 p.m.
Comment on list classification: Associated with pulmonary alveolar proteinosis. Reported in at least two families and supported by mouse model. Green from external expert review and further publications to support gene-disease association
Created: 6 Jul 2018, 10:04 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 6 Jul 2018, 10:02 a.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
alveolar proteinosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Congenital defects of phagocyte number or function
  • Alveolar proteinosis
OMIM
138981
Clinvar variants
Variants in CSF2RB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: CSF2RB was added gene: CSF2RB was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RB were set to 21205713; 21075760; 9410898 Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, 614370; Congenital defects of phagocyte number or function; Alveolar proteinosis