COVID-19 research
Gene: LIG4
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): LIG4 .PanelApp HGNC gene symbol check: LIG4 . IUIS Disease: DNA ligase IV deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Very low, .IUIS Other affected cells: N/A. IUIS Associated features: Nl NK, radiation sensitive, microcephaly. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B- SCIDCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: LIG4, PanelApp HGNC gene symbol check: LIG4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Severe combined immunodeficiency (SCID)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: LIG4, GRID_Gene_Symbol: LIG4, GRID_Transcript_ENS_Community submitted: ENST00000356922, GRID_Transcript_RefSeq: NM_002312.3, GRID_Transcript_ENS_used_on_Production: ENST00000356922Created: 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
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Originally a green gene, and 3 reviewers agree.Created: 3 Jun 2016, 12:45 p.m.
gene: LIG4 was added gene: LIG4 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to Combined immunodeficiency; LIG4 syndrome; DNA ligase IV deficiency; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450; Severe combined immunodeficiency (SCID); T-B- SCID; LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500; Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation