TBK1

TANK binding kinase 1
OMIM: 604834, Gene2Phenotype

7 panels

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


Level 2: Viral research
Version 1.142

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 1.83

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


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
  • Herpes simplex encephalitis, susceptibility to
  • Herpetic encephalitis (HSE)
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
Green TBK1 in Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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 1.69

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Amyotrophic lateral sclerosis
  • fronto-temporal dementia
Green TBK1 in Adult onset dystonia, chorea or related movement disorder


Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

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 Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439