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COVID-19 research

Gene: IL12B

Green List (high evidence)

IL12B (interleukin 12B)
EnsemblGeneIds (GRCh38): ENSG00000113302
EnsemblGeneIds (GRCh37): ENSG00000113302
OMIM: 161561, Gene2Phenotype
IL12B is in 4 panels

4 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

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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): IL12B .PanelApp HGNC gene symbol check: IL12B . IUIS Disease: IL-12p40 (IL-12 and IL-23) deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: M. IUIS Associated features: Susceptibility to mycobacteria and Salmonella. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Mendelian Susceptibility to mycobacterial disease (MSMD)
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease association. More than there unrelated cases, pathogenic variants have been found in 49 patients from 30 kindreds originating from India, Iran, Pakistan, Saudi Arabia and Tunisia.
Created: 27 Jun 2018, 10:56 a.m.
Comment on publications: added publication to support gene-disease association
Created: 27 Jun 2018, 10:54 a.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: IL12B, PanelApp HGNC gene symbol check: IL12B, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Defects with susceptibility to mycobacterial infection (MSMD) / Defects with susceptibility to mycobacterial infection (MSMD)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL12B, GRID_Gene_Symbol: IL12B, GRID_Transcript_ENS_Community submitted: ENST00000231228, GRID_Transcript_RefSeq: NM_002187.2, GRID_Transcript_ENS_used_on_Production: ENST00000231228
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
  • Immunodeficiency 29, mycobacteriosis, 614890
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  • Defects in Intrinsic and Innate Immunity
OMIM
161561
Clinvar variants
Variants in IL12B
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: IL12B was added gene: IL12B 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,IUIS Classification February 2018 Mode of inheritance for gene: IL12B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL12B were set to 11753820; 24127073; 9854038; 15322986 Phenotypes for gene: IL12B were set to Susceptibility to mycobacteria and Salmonella; Immunodeficiency 29, mycobacteriosis, 614890; Defects with susceptibility to mycobacterial infection (MSMD); Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency; Defects in Intrinsic and Innate Immunity