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COVID-19 research

Gene: TBK1

Green List (high evidence)

TBK1 (TANK binding kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 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)

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

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Rating this gene green as there are 3 unrelated cases with a likely pathogenic mutation in this gene.
Created: 5 Jun 2018, 4:45 p.m.
In OMIM this gene is associated with Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8. OMIM reports 3 independent cases in which variants in this gene are thought to cause this phenotype. Firstly, Herman et al. (2012)(PMID: 22851595) report of 2 unrelated patients from Poland and France with herpes simplex encephalitis , Herman et al. (2012) identified heterozygous missense mutations in the TBK1 gene (G159A and D50A). Both are loss of function mutations (loss of kinase activity (G159A) and protein instability (D50A)). In vitro functional expression assays showed that the G159A mutation had a dominant-negative effect, whereas the D50A mutation resulted in haploinsufficiency. Neither variant was found in dbSNP (build 135) or in 1050 control human DNA samples. OMIM also cite Mork et al. (2015) (PMID: 26513235), who report a Danish woman (P10) with adult-onset herpes simplex encephalitis with a heterozygous missense mutation in the TBK1 gene (I207V). The variant was confirmed by Sanger sequencing, was not found in the ExAC database. No data about this gene in Gene2Phenotype. Rating this gene green as there are 3 unrelated cases with a likely pathogenic mutation in this gene.
Created: 5 Jun 2018, 4:43 p.m.
Comment on phenotypes: Added {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}
Created: 5 Jun 2018, 3:12 p.m.

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

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): TBK1 .PanelApp HGNC gene symbol check: TBK1 . IUIS Disease: TBK1 deficiency . IUIS Inheritance: AD .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.
Comment on mode of inheritance: added MOI from external expert review
Created: 13 Jun 2018, 10:23 a.m.
Comment on publications: added to support upgrading of the gene to Green
Created: 13 Jun 2018, 10:22 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, 1:34 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TBK1, PanelApp HGNC gene symbol check: TBK1, 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: TBK1, GRID_Gene_Symbol: TBK1, GRID_Transcript_ENS_Community submitted: ENST00000331710, GRID_Transcript_RefSeq: NM_013254.3, GRID_Transcript_ENS_used_on_Production: ENST00000331710
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900
  • Herpes simplex encephalitis, susceptibility to
  • Defects in Intrinsic and Innate Immunity
OMIM
604834
Clinvar variants
Variants in TBK1
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 TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Herpetic encephalitis (HSE); Herpes simplex virus 1 encephalitis; {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900; Herpes simplex encephalitis, susceptibility to; Defects in Intrinsic and Innate Immunity for gene: TBK1 Publications for gene TBK1 were updated from to 22851595; 26513235

31 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TBK1 was added gene: TBK1 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: TBK1 was set to Unknown