Genomics England
GMS Panels
Panels
Genes and Entities

TBK1

TANK binding kinase 1
OMIM: 604834
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset dystonia, chorea or related movement disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation with arthritis and vasculitis, OMIM:620880
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, OMIM:617900, Autoinflammation with arthritis and vasculitis, OMIM:620880