Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IFNGR2
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Comment on publications: Added publication PMID:30264912 as suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) to support mode of inheritance change to reflect both biallelic and monoallelic.Created: 1 Nov 2018, 6:11 p.m.
Comment on mode of inheritance: From external review the MOI was changed from biallelic to both biallelic and monoallelic to cover the AR and AD options in the table in PMID:30264912Created: 1 Nov 2018, 6:08 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IFNGR2 .PanelApp HGNC gene symbol check: IFNGR2 . IUIS Disease: IFN-g receptor 2 deficiency . IUIS Inheritance: AR .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: M + L. IUIS Associated features: Susceptibility to mycobacteria and Salmonella. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Mendelian Susceptibility to mycobacterial disease (MSMD)Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease associationCreated: 21 Jun 2018, 1:02 p.m.
Comment on publications: added publication to support gene-disease associationCreated: 21 Jun 2018, 1:01 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: IFNGR2, PanelApp HGNC gene symbol check: IFNGR2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Defects with susceptibility to mycobacterial infection (MSMD) / Defects with susceptibility to mycobacterial infection (MSMD)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IFNGR2, GRID_Gene_Symbol: IFNGR2, GRID_Transcript_ENS_Community submitted: ENST00000290219, GRID_Transcript_RefSeq: NM_005534.3, GRID_Transcript_ENS_used_on_Production: ENST00000290219Created: 17 Apr 2018, 12:12 p.m.
Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743; 30264912
Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, Mycobacteriosis, 614889; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria and Salmonella; Defects in Intrinsic and Innate Immunity to Immunodeficiency 28, mycobacteriosis, OMIM:614889
Source NHS GMS was added to IFNGR2.
Source North West GLH was added to IFNGR2.
Source London North GLH was added to IFNGR2.
Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743
Mode of inheritance for gene: IFNGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
Phenotypes for gene IFNGR2 were set to Immunodeficiency 28, Mycobacteriosis, 614889, Defects with susceptibility to mycobacterial infection (MSMD), Susceptibility to mycobacteria and Salmonella, Defects in Intrinsic and Innate Immunity
IUIS Classification February 2018 was added to IFNGR2. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IFNGR2. Panel: Primary immunodeficiency disorders
Gene: ifngr2 has been classified as Green List (High Evidence).
Gene: ifngr2 has been classified as Green List (High Evidence).
Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, Mycobacteriosis, 614889; Defects with susceptibility to mycobacterial infection (MSMD)
Phenotypes for IFNGR2 were set to Immunodeficiency 28; Mycobacteriosis; Defects with susceptibility to mycobacterial infection (MSMD)
Expert Review Amber was added to IFNGR2. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to IFNGR2. Panel: Primary immunodeficiency disorders Phenotypes for gene IFNGR2 were set to Immunodeficiency 28, Mycobacteriosis, Mycobacteriosis, Defects with susceptibility to mycobacterial infection (MSMD)
Phenotypes for gene IFNGR2 were set to Immunodeficiency 28, Mycobacteriosis, Mycobacteriosis
IFNGR2 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
IFNGR2 was created by Louise Daugherty