Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ITGB2
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
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ITGB2 .PanelApp HGNC gene symbol check: ITGB2 . IUIS Disease: Leukocyte adhesion deficiency type 1 (LAD1) . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N + M + L + NK. IUIS Associated features: Delayed cord separation, skin ulcers, periodontitis, leukocytosis. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of MotilityCreated: 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: 27 Jun 2018, 10:03 a.m.
Comment on publications: added publications to support phenotype, more than one pathogenic variant found in more than three unrelated cases.Created: 27 Jun 2018, 10:01 a.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: LAD1 / ITGB2, PanelApp HGNC gene symbol check: ITGB2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Leukocyte adhesion deficiency (LAD) / Leukocyte adhesion deficiency (LAD)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ITGB2, GRID_Gene_Symbol: ITGB2, GRID_Transcript_ENS_Community submitted: ENST00000397850, GRID_Transcript_RefSeq: NM_000211.3, GRID_Transcript_ENS_used_on_Production: ENST00000397850Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to ITGB2.
Source North West GLH was added to ITGB2.
Source London North GLH was added to ITGB2.
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 ITGB2 were set to Leukocyte adhesion deficiency, 116920, LAD, Leukocyte adhesion deficiency type I, Delayed cord separation, skin ulcers, periodontitis, leukocytosis, Congenital defects of phagocyte number or function
Gene: itgb2 has been classified as Green List (High Evidence).
Gene: itgb2 has been classified as Green List (High Evidence).
Publications for gene: ITGB2 were set to 1968911; 1694220; 1346613; 7472832
Publications for gene: ITGB2 were set to 1968911; 1694220; 1346613
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920; LAD; Leukocyte adhesion deficiency type I
IUIS Classification February 2018 was added to ITGB2. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to ITGB2. Panel: Primary immunodeficiency disorders
Phenotypes for ITGB2 were set to Leukocyte adhesion deficiency; LAD
Expert Review Amber was added to ITGB2. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to ITGB2. Panel: Primary immunodeficiency disorders Phenotypes for gene ITGB2 were set to Leukocyte adhesion deficiency, Leukocyte adhesion deficiency (LAD)
Phenotypes for gene ITGB2 were set to Leukocyte adhesion deficiency
GRID V2.0 was added to ITGB2. Panel: Primary immunodeficiency disorders Phenotypes for gene ITGB2 were set to Leukocyte adhesion deficiency
ITGB2 Source: GOSH PID 20171163 was removed from gene: ITGB2
GOSH PID v.8.0 was added to ITGB2. Panel: Primary immunodeficiency disorders
ITGB2 was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171163
ITGB2 was created by Louise Daugherty