Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FOXP3Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 12:56 p.m. | Last Modified: 14 Oct 2020, 12:56 p.m.
Panel Version: 2.253
The following PubMed IDs were added to entity FOXP3: 29241729;18951619;30443250. These publications have been associated with OMIM phenotype MIM#304790, which is listed for this entity, by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
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 has been classified as Green List (High Evidence).
Source Other was added to FOXP3. Publications for gene FOXP3 were updated from 17635943; 16741580; 14671208; 11120765; 11295725 to 11295725; 29241729; 30443250; 17635943; 18951619; 11120765; 16741580; 14671208 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to FOXP3.
Source North West GLH was added to FOXP3.
Source London North GLH was added to FOXP3.
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 FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790, IPEX, FOXP3 deficiency (IPEX), Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome, Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA, Diseases of Immune Dysregulation
Gene: foxp3 has been classified as Green List (High Evidence).
IUIS Classification February 2018 was added to FOXP3. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to FOXP3. Panel: Primary immunodeficiency disorders
Gene: foxp3 has been classified as Green List (High Evidence).
Publications for gene: FOXP3 were set to 17635943; 16741580; 14671208; 11120765; 11295725
Publications for gene: FOXP3 were set to 17635943; 16741580; 14671208; 11120765; 11120765; 11295725
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; IPEX; FOXP3 deficiency (IPEX); Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome
Phenotypes for FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX; FOXP3 deficiency (IPEX)
Expert Review Amber was added to FOXP3. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to FOXP3. Panel: Primary immunodeficiency disorders Phenotypes for gene FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX), FOXP3 deficiency (IPEX)
Phenotypes for gene FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
GRID V2.0 was added to FOXP3. Panel: Primary immunodeficiency disorders Phenotypes for gene FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
FOXP3 Source: GOSH PID 20171151 was removed from gene: FOXP3
GOSH PID v.8.0 was added to FOXP3. Panel: Primary immunodeficiency disorders
FOXP3 was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171151
FOXP3 was created by Louise Daugherty