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Primary immunodeficiency

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

5 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)

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 6 614850
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
OMIM
607601
Clinvar variants
Variants in TICAM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TICAM1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to TICAM1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TICAM1.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TICAM1 were set to Encephalopathy, acute, infection-induced, susceptibility to, 6 614850, Herpetic encephalitis (HSE), Herpes simplex virus 1 encephalitis, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to TICAM1. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to TICAM1. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ticam1 has been classified as Green List (High Evidence).

14 Jun 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TICAM1 were set to Encephalopathy, acute, infection-induced, susceptibility to, 6 614850; Herpetic encephalitis (HSE)

14 Jun 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TICAM1 were set to 22105173; 26513235

14 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ticam1 has been classified as Green List (High Evidence).

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to TICAM1. Panel: Primary immunodeficiency disorders Phenotypes for gene TICAM1 were set to Encephalopathy, acute, infection-induced, susceptibility to, 6, Herpetic encephalitis (HSE)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TICAM1 were set to Encephalopathy, acute, infection-induced, susceptibility to, 6

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TICAM1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TICAM1 was created by Louise Daugherty