TBK1

TANK binding kinase 1
OMIM: 604834, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green TBK1 in COVID-19 research


Level 2: Viral research
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • 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
  • 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
Green TBK1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • FTLD
  • ALS
Green TBK1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.24
Latest signed off version: v9.0 (6 May 2026)

review 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 (herpes-specific), susceptibility to, 8}, OMIM:617900
  • Autoinflammation with arthritis and vasculitis, OMIM:620880
Green TBK1 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
    Green TBK1 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis
    • fronto-temporal dementia
    No list TBK1 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.7
    Latest signed off version: v5.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Juvenile open angle glaucoma
    • Juvenile normal tension glaucoma
    • HP:0001087 developmental glaucoma
    • HP:0012108 open angle glaucoma
    • HP:0000501 glaucoma
    Green TBK1 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 6.6
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
    Green TBK1 in Autoinflammatory disorders


    Level 2: Immunology
    Version 3.10
    Latest signed off version: v3.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Expert Review
    • Expert list
    Phenotypes
    • Autoinflammation with arthritis and vasculitis, OMIM:620880