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STRs in panel
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Primary immunodeficiency

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

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

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
  • 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

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CSF2RB.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CSF2RB.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CSF2RB.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: csf2rb has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: csf2rb has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, 614370; Alveolar proteinosis; Congenital defects of phagocyte number or function

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CSF2RB were set to 9410898; 21205713; 21075760

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CSF2RB were set to Alveolar proteinosis, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CSF2RB was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CSF2RB was created by Louise Daugherty