TBK1:Ensemblv115

TANK binding kinase 1
OMIM: 604834, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TBK1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439

Green TBK1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 4 (MIM#616439
  • MONDO:0011223)

Green TBK1 in Incidentalome


Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD

Green TBK1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • frontotemporal dementia with motor neuron disease MONDO:0017161
  • Disorders of autophagy

Green TBK1 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 2.0

2 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green

Green TBK1 in Susceptibility to Viral Infections


Level 2: Immunological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Hereditary predisposition to infections, MONDO:0015979, TBK1-related

Green TBK1 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Autoinflammation with arthritis and vasculitis, MIM# 620880