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COVID-19 research

Gene: TICAM1

Green List (high evidence)

TICAM1 (toll like receptor adaptor molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000127666
EnsemblGeneIds (GRCh37): ENSG00000127666
OMIM: 607601, Gene2Phenotype
TICAM1 is in 3 panels

6 reviews

Abdelazeem Elhabyan (Arizona State University)

Green List (high evidence)

TRIF is a protein involved in the TLR3 signalling pathway(22). Autosomal recessive nonsense mutation was reported in a 2-year-old-Saudi Arabian boy leading to complete absence of the protein and impaired TLR3 and TLR4 signalling pathways. Additionally, a 21-month-old girl carried autosomal dominant missense mutation leading to dysfunctional protein impairing TLR3 signalling pathway only. The girl’s mother and grandfather carried the same mutation and were seropositive for HSV. However, they had no previous HSE. PMID :22105173

Autosomal dominant mutation (c.1702G>A/ pAla568Thr)was reported in a 73-year-old patient and 69-year-old patient( c.749C>T/Ser160Phe). Both of them presented with HSE. Blood mononuclear leukocytes lacked an antiviral response in vitro. PMID: 26513235
Created: 10 May 2020, 8:18 p.m. | Last Modified: 10 May 2020, 8:18 p.m.
Panel Version: 0.204

Mode of inheritance
Other

Phenotypes
Herpes simplex encephalitis predisposition

Publications

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)

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added MIM number to Encephalopathy, acute, infection-induced, susceptibility to, 6
Created: 14 Jun 2018, 3:46 p.m.
Comment on publications: Added publications describing variants in this gene associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6
Created: 14 Jun 2018, 3:45 p.m.
Comment on list classification: There are more than 3 plausible disease causing mutations within this gene.
Created: 14 Jun 2018, 3:44 p.m.
In OMIM this TICAM1 (TRIF) is associated with {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}. OMIM reports that Sancho-Shimizu et al. (2011) (PMID: 22105173) identified causative mutations in the TRIF gene in 2 unrelated patients with herpes simplex encephalitis (HSE): a homozygous nonsense mutation (R141X) that resulted in premature termination and no detectable TRIF protein and heterozygous (S186L) substitution in the N terminus of the protein. Fibroblasts from both patients showed impaired production of IFNB, IFNL1, IFNL3 , and IL6 after stimulation with poly(I:C). Mork et al. (2015) (PMID: 26513235) report 2 unrelated Danish men (P5 and P6) with onset of herpes simplex encephalitis after age 60 years, with heterozygous missense mutations in the TICAM1 gene (A568T and S160F). Peripheral blood mononuclear cells from both patients showed variable but significantly impaired beta-interferon, CXCL10 (147310), and/or TNFA responses to poly(I;C) stimulation and/or HSV-1 infection compared to controls. There are more than 3 plausible disease causing mutations within this gene.
Created: 14 Jun 2018, 3:44 p.m.

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): TICAM1 .PanelApp HGNC gene symbol check: TICAM1 . IUIS Disease: TRIF deficiency . IUIS Inheritance: AD or AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: CNS resident cells and fibroblasts. IUIS Associated features: Herpes simplex virus 1 encephalitis. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Herpes Simplex Encephalitis (HSE)
Created: 2 Jul 2018, 10:35 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: 19 Apr 2018, 12:54 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TRIF, PanelApp HGNC gene symbol check: TICAM1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Herpetic encephalitis / Herpetic encephalitis (HSE)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TICAM1, GRID_Gene_Symbol: TICAM1, GRID_Transcript_ENS_Community submitted: ENST00000248244, GRID_Transcript_RefSeq: NM_182919.3, GRID_Transcript_ENS_used_on_Production: ENST00000248244
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 6 614850
  • Herpes simplex virus 1 encephalitis
  • Herpetic encephalitis (HSE)
  • Defects in Intrinsic and Innate Immunity
OMIM
607601
Clinvar variants
Variants in TICAM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 6 614850; Herpes simplex virus 1 encephalitis; Herpetic encephalitis (HSE); Defects in Intrinsic and Innate Immunity for gene: TICAM1 Publications for gene TICAM1 were updated from to 22105173; 26513235

31 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TICAM1 was added gene: TICAM1 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TICAM1 was set to Unknown