Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CSF2RB
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
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 DefectsCreated: 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 associationCreated: 6 Jul 2018, 10:04 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 6 Jul 2018, 10:02 a.m.
Source NHS GMS was added to CSF2RB.
Source North West GLH was added to CSF2RB.
Source London North GLH was added to CSF2RB.
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.
Gene: csf2rb has been classified as Green List (High Evidence).
Gene: csf2rb has been classified as Green List (High Evidence).
Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, 614370; Alveolar proteinosis; Congenital defects of phagocyte number or function
Mode of inheritance for gene: CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF2RB were set to 9410898; 21205713; 21075760
Phenotypes for gene CSF2RB were set to Alveolar proteinosis, Congenital defects of phagocyte number or function
CSF2RB was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
CSF2RB was created by Louise Daugherty