amyotrophic lateral sclerosis type 15
Findings
No curated finding names amyotrophic lateral sclerosis type 15 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 UBQLN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010459), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
3 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
- 34 of 40 reported patients
- DysarthriaHPOHP:0001260
- DysphagiaHPOHP:0002015
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.
- UBQLN2HGNC:12509
- Definitive · ClinGen · X-linked · 2021
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Moderate · Ambry Genetics · X-linked · 2024
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 15
- Also called
- ALS15amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominantamyotrophic lateral sclerosis caused by mutation in UBQLN2UBQLN2 amyotrophic lateral sclerosis