Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TICAM1

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

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

Green List (high evidence)

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.

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.