COVID-19 research
Gene: FOXP3
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): FOXP3 .PanelApp HGNC gene symbol check: FOXP3 . IUIS Disease: IPEX, immune dysregulation, polyendocrinopathy, enteropathy X-linked . IUIS Inheritance: XL .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA . IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Regulatory T Cell DefectsCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed from Amber to Green enough evidence to support immune dysfunctionCreated: 19 Jun 2018, 2:13 p.m.
Comment on publications: added publications to support gene-disease associationCreated: 19 Jun 2018, 1:02 p.m.
Comment on phenotypes: added phenotype from orphanet and OMIM MIMid.Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.Created: 19 Jun 2018, 12:55 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: FOXP3, PanelApp HGNC gene symbol check: FOXP3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / IPEX / FOXP3 deficiency (IPEX)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: FOXP3, GRID_Gene_Symbol: FOXP3, GRID_Transcript_ENS_Community submitted: ENST00000376207, GRID_Transcript_RefSeq: NM_014009.3, GRID_Transcript_ENS_used_on_Production: ENST00000376207Created: 17 Apr 2018, 12:12 p.m.
gene: FOXP3 was added gene: FOXP3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FOXP3 were set to 17635943; 11120765; 11295725; 16741580; 14671208 Phenotypes for gene: FOXP3 were set to FOXP3 deficiency (IPEX); Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome; Diseases of Immune Dysregulation; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; IPEX; Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA