Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CSF2RB

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

5 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

The clinical presentation is with interstitial lung disease, so I am not sure this gene belongs in a PID panel in the same way that some immune system related genes are more appropriate for the renal panels (aHUS).
Created: 10 Apr 2020, 6:11 a.m. | Last Modified: 10 Apr 2020, 6:11 a.m.

Panel Version: 2.51

Created: 10 Apr 2020, 6:11 a.m.
Last Modified: 10 Apr 2020, 6:11 a.m.
Panel version: 2.51

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

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

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.

Created: 6 Jul 2018, 10:02 a.m.

Panel version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
alveolar proteinosis

Publications

Created: 29 Jun 2018, 4:20 p.m.

Panel version: 0.1370

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
North West GLH
London North GLH
Expert Review Green
IUIS Classification February 2018

Phenotypes

Surfactant metabolism dysfunction, pulmonary, 5, 614370
Alveolar proteinosis
Congenital defects of phagocyte number or function

OMIM

138981

Clinvar variants

Variants in CSF2RB

Penetrance

None

Publications

Panels with this gene