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STRs in panel
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COVID-19 research

Gene: IGLL1

Green List (high evidence)

IGLL1 (immunoglobulin lambda like polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000128322
EnsemblGeneIds (GRCh37): ENSG00000128322
OMIM: 146770, Gene2Phenotype
IGLL1 is in 3 panels

6 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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, Agammaglobulinemia
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed from Amber to Green, enough evidence in the literature and expert review
Created: 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 / Agammaglobulinemia
Created: 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: ENST00000330377
Created: 17 Apr 2018, 12:12 p.m.

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Green List (high evidence)

3 patients now identified
Created: 6 Jan 2017, 3:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Sarah Leigh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Agammaglobulinemia 2, 613500
  • Agammaglobulinemia 2
  • Predominantly Antibody Deficiencies
OMIM
146770
Clinvar variants
Variants in IGLL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: IGLL1 was added gene: IGLL1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGLL1 were set to 27576013; 9419212; 25502423 Phenotypes for gene: IGLL1 were set to Agammaglobulinemia; Severe bacterial infections, normal numbers of pro-B cells; Agammaglobulinemia 2, 613500; Agammaglobulinemia 2; Predominantly Antibody Deficiencies