Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ITKComment 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, 1:14 p.m. | Last Modified: 14 Oct 2020, 1:14 p.m.
Panel Version: 2.267
The following PubMed IDs were added to gene ITK (OMIM gene MIM#186973): 29867957. These publications have been associated with the gene 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): ITK .PanelApp HGNC gene symbol check: ITK . IUIS Disease: ITK deficiency . IUIS Inheritance: AR .T cells: Normal, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative ConditionsCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ITK, PanelApp HGNC gene symbol check: ITK, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / ITK deficiency (HLH phenotype)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ITK, GRID_Gene_Symbol: ITK, GRID_Transcript_ENS_Community submitted: ENST00000422843, GRID_Transcript_RefSeq: NM_005546.3, GRID_Transcript_ENS_used_on_Production: ENST00000422843Created: 17 Apr 2018, 12:12 p.m.
Comment on list classification: Added by expert review, and ratd green by a second reviewer. Reports of 2 Turkish sisters, 3 members of an Arab family and one Moroccan case reported in OMIM.Created: 3 Jun 2016, 1:49 p.m.
Phenotypes
EBV viraemia, HLH
Gene: itk has been classified as Green List (High Evidence).
Source Other was added to ITK. Publications for gene ITK were updated from 19425169; 22289921; 21109689 to 29867957; 22289921; 21109689; 19425169 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to ITK.
Source North West GLH was added to ITK.
Source London North GLH was added to ITK.
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 ITK were set to Lymphoproliferative syndrome 1, Combined immunodeficiency, ITK deficiency (HLH phenotype), EBV viraemia, HLH, EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG, Diseases of Immune Dysregulation
IUIS Classification February 2018 was added to ITK. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to ITK. Panel: Primary immunodeficiency disorders
Gene: itk has been classified as Green List (High Evidence).
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1; Combined immunodeficiency; ITK deficiency (HLH phenotype); EBV viraemia, HLH
ESID Registry 20171117 was added to ITK. Panel: Primary immunodeficiency disorders Phenotypes for gene ITK were set to Lymphoproliferative syndrome 1, Combined immunodeficiency, ITK deficiency (HLH phenotype)
Phenotypes for gene ITK were set to Lymphoproliferative syndrome 1
GRID V2.0 was added to ITK. Panel: Primary immunodeficiency disorders Phenotypes for gene ITK were set to Lymphoproliferative syndrome 1
ITK Source: GOSH PID 20171164 was removed from gene: ITK
GOSH PID v.8.0 was added to ITK. Panel: Primary immunodeficiency disorders
GOSH PID 20171164 was added to ITK. Panel: Primary immunodeficiency disorders
ITK was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Combined B and T cell defect v1.12
ITK was created by Louise Daugherty