Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IGLL1
agree with green geneCreated: 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): IGLL1 .PanelApp HGNC gene symbol check: IGLL1 . IUIS Disease: l5 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Severe bacterial infections, normal numbers of pro-B cells. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, AgammaglobulinemiaCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed from Amber to Green, enough evidence in the literature and expert reviewCreated: 18 Jun 2018, 11:16 a.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Red. The gene is present in the 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: IGLL1, PanelApp HGNC gene symbol check: IGLL1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Agammaglobulinemias / AgammaglobulinemiaCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IGLL1, GRID_Gene_Symbol: IGLL1, GRID_Transcript_ENS_Community submitted: ENST00000330377, GRID_Transcript_RefSeq: NM_020070.2, GRID_Transcript_ENS_used_on_Production: ENST00000330377Created: 17 Apr 2018, 12:12 p.m.
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
Comment when marking as ready: One positive and two negative expert reviews. No association with disease on Gen2Phen. Two LOF variants reported on a compoud heterozygous patient in the publication.Created: 11 May 2016, 9:53 a.m.
Source NHS GMS was added to IGLL1.
Source North West GLH was added to IGLL1.
Source London North GLH was added to IGLL1.
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 IGLL1 were set to Agammaglobulinemia 2, 613500, Agammaglobulinemia 2, Agammaglobulinemia, Severe bacterial infections, normal numbers of pro-B cells, Predominantly Antibody Deficiencies
Gene: igll1 has been classified as Green List (High Evidence).
IUIS Classification February 2018 was added to IGLL1. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IGLL1. Panel: Primary immunodeficiency disorders
Publications for gene: IGLL1 were set to 9419212; 25502423; 27576013
Gene: igll1 has been classified as Green List (High Evidence).
Publications for IGLL1 were set to 9419212; 25502423
Expert Review Amber was added to IGLL1. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to IGLL1. Panel: Primary immunodeficiency disorders Phenotypes for gene IGLL1 were set to Agammaglobulinemia 2, 613500, Agammaglobulinemia 2, Agammaglobulinemia
Phenotypes for gene IGLL1 were set to Agammaglobulinemia 2, 613500, Agammaglobulinemia 2
GRID V2.0 was added to IGLL1. Panel: Primary immunodeficiency disorders Phenotypes for gene IGLL1 were set to Agammaglobulinemia 2, 613500, Agammaglobulinemia 2
IGLL1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25
IGLL1 was created by Louise Daugherty