Primary immunodeficiency or monogenic inflammatory bowel disease
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.
Source NHS GMS was added to FERMT3.
Source North West GLH was added to FERMT3.
Source London North GLH was added to FERMT3.
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 FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840, LAD, LAD type 1 plus bleeding tendency, Congenital defects of phagocyte number or function
Gene: fermt3 has been classified as Green List (High Evidence).
IUIS Classification February 2018 was added to FERMT3. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to FERMT3. Panel: Primary immunodeficiency disorders
Gene: fermt3 has been classified as Green List (High Evidence).
Publications for gene: FERMT3 were set to 17185466; 12511588; 19234463; 20357244; 21441448; 27749372; 26729028
Publications for gene: FERMT3 were set to 17185466; 12511588; 19234463; 20357244; 21441448
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840; LAD
Phenotypes for FERMT3 were set to Leukocyte adhesion deficiency, type III; LAD
Expert Review Amber was added to FERMT3. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to FERMT3. Panel: Primary immunodeficiency disorders Phenotypes for gene FERMT3 were set to Leukocyte adhesion deficiency, type III, Leukocyte adhesion deficiency (LAD)
Phenotypes for gene FERMT3 were set to Leukocyte adhesion deficiency, type III
FERMT3 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
FERMT3 was created by Louise Daugherty