COVID-19 research
Gene: FERMT3
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): FERMT3 .PanelApp HGNC gene symbol check: FERMT3 . IUIS Disease: Leukocyte adhesion deficiency type 3 (LAD3) . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N + M + L + NK. IUIS Associated features: LAD type 1 plus bleeding tendency. 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 from Amber to Green enough evidence to support immune dysfunction, more than three unrelated cases and pathogenic variantsCreated: 19 Jun 2018, 12:53 p.m.
Immunological clinical phenotypes include: Leukocytosis, Recurrent bacterial infections, Fungal infections, Defective neutrophil adhesion to endothelial cells.Created: 19 Jun 2018, 12:52 p.m.
added early-onset tagCreated: 19 Jun 2018, 12:50 p.m.
Comment on publications: added publications to support phenotypeCreated: 19 Jun 2018, 12:34 p.m.
previous approved gene symbol KIND3Created: 19 Jun 2018, 12:26 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: LAD3, PanelApp HGNC gene symbol check: FERMT3, 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: FERMT3, GRID_Gene_Symbol: FERMT3, GRID_Transcript_ENS_Community submitted: ENST00000279227, GRID_Transcript_RefSeq: NM_178443.2, GRID_Transcript_ENS_used_on_Production: ENST00000279227Created: 17 Apr 2018, 12:12 p.m.
gene: FERMT3 was added gene: FERMT3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT3 were set to 26729028; 27749372; 12511588; 17185466; 19234463; 21441448; 20357244 Phenotypes for gene: FERMT3 were set to LAD type 1 plus bleeding tendency; LAD; Congenital defects of phagocyte number or function; Leukocyte adhesion deficiency, type III, 612840