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STRs in panel
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COVID-19 research

Gene: TNFAIP3

Green List (high evidence)

TNFAIP3 (TNF alpha induced protein 3)
EnsemblGeneIds (GRCh38): ENSG00000118503
EnsemblGeneIds (GRCh37): ENSG00000118503
OMIM: 191163, Gene2Phenotype
TNFAIP3 is in 5 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)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autoinflammatory syndrome, familial, Behcet-like; Autoimmune lymphoproliferative syndrome

Publications

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): TNFAIP3 .PanelApp HGNC gene symbol check: TNFAIP3 . IUIS Disease: A20 deficiency . IUIS Inheritance: AD LOF .T cells: Increased activated T cells, .B cells: N/A, .IUIS Other affected cells: Lymphocytes. IUIS Associated features: Arthralgia, mucosal ulcers, ocular inflammation. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease association
Created: 13 Jun 2018, 10:20 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review and OMIM MIMid
Created: 13 Jun 2018, 10:19 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 13 Jun 2018, 10:18 a.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 13 Jun 2018, 10:18 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TNFAIP3, PanelApp HGNC gene symbol check: TNFAIP3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / A20 deficiency
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • A20 deficiency
  • Autoimmune lymphoproliferative syndrome
  • Autoinflammatory Disorders
  • Autoinflammatory syndrome, familial, Behcet-like, 616744
  • Arthralgia, mucosal ulcers, ocular inflammation
OMIM
191163
Clinvar variants
Variants in TNFAIP3
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: TNFAIP3 was added gene: TNFAIP3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNFAIP3 were set to 27845235; 29572183; 26642243; 28659290; 29317407 Phenotypes for gene: TNFAIP3 were set to A20 deficiency; Autoimmune lymphoproliferative syndrome; Autoinflammatory Disorders; Autoinflammatory syndrome, familial, Behcet-like, 616744; Arthralgia, mucosal ulcers, ocular inflammation