TBK1

TANK binding kinase 1
OMIM: 604834, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TBK1 in COVID-19 research Level 2: Viral research Version 1.146	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 1.84	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 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, OMIM:617900 Autoinflammation with arthritis and vasculitis, OMIM:620880 Tags Q2_25_ MOI
Green TBK1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.74	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 Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	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 2.35 Latest signed off version: v2.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Expert Review Expert list Phenotypes Autoinflammation with arthritis and vasculitis, OMIM:620880