amyotrophic lateral sclerosis type 22
Findings
No curated finding names amyotrophic lateral sclerosis type 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.
Definition from the Mondo Disease Ontology (MONDO:0014531), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Amyotrophic lateral sclerosisHPOHP:0007354
- 8 of 8 reported patients
- Frontotemporal dementiaHPOHP:0002145
- 2 of 8 reported patients
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.
- TUBA4AHGNC:12407
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · ClinGen · Autosomal dominant · 2025
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 22
- Also called
- ALS 22amyotrophic lateral sclerosis 22 with or without frontotemporal dementiaamyotrophic lateral sclerosis caused by mutation in TUBA4ATUBA4A amyotrophic lateral sclerosis