COVID-19 research

Gene: CD40LG

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

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

Green List (high evidence)

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): CD40LG (TNFSF5) .PanelApp HGNC gene symbol check: CD40LG . IUIS Disease: CD40 ligand deficiency (CD154) . IUIS Inheritance: XL .T cells: N/A, .B cells: sIgM+, IgD+ cells present, absent sIgG+, IgA+ and IgE+ cells, .IUIS Other affected cells: N/A. IUIS Associated features: Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency

Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: changed from Amber to Green rating, there is enough evidence in the literature to support the PID phenotype

Created: 4 May 2018, 2:29 p.m.

This is most common form of HIGM syndrome and results from a defect or deficiency of a protein that is found on the surface of activated T-lymphocytes. The affected protein is called CD40 ligand because it binds, or ligates, to a protein on B-lymphocytes called CD40. CD40 ligand is made by a gene on the X-chromosome. Therefore, this primary immunodeficiency disease is inherited as an X-linked recessive trait.

Created: 4 May 2018, 2:28 p.m.

Comment on publications: Added publications to support C40L variants causing a PID phenotype- more than three unrelated affecteds (over 30) and animal models. Added Generview

Created: 4 May 2018, 2 p.m.

Comment on phenotypes: added phenotypes and synonyms from OMIM and orphanet

Created: 4 May 2018, 12:56 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: CD40L (CD154), PanelApp HGNC gene symbol check: CD40LG, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Class switch recombination defects (CSR) / HIGM syndromes / CSR defects and Hyper IgM (HIGM) syndromes

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CD40LG, GRID_Gene_Symbol: CD40LG, GRID_Transcript_ENS_Community submitted: ENST00000370629, GRID_Transcript_RefSeq: NM_000074.2, GRID_Transcript_ENS_used_on_Production: ENST00000370629

Created: 17 Apr 2018, 12:12 p.m.