frontotemporal dementia and/or amyotrophic lateral sclerosis 4
MONDO:0014641Mondo
Findings
No curated finding names frontotemporal dementia and/or amyotrophic lateral sclerosis 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.
Definition from the Mondo Disease Ontology (MONDO:0014641), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBK1HGNC:11584
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Also called
- frontotemporal dementia and/or amyotrophic lateral sclerosis type 4FTDALS4