frontotemporal dementia and/or amyotrophic lateral sclerosis 7
MONDO:0010936Mondo
Findings
No curated finding names frontotemporal dementia and/or amyotrophic lateral sclerosis 7 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 CHMP2B gene.
Definition from the Mondo Disease Ontology (MONDO:0010936), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age 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.
- CHMP2BHGNC:24537
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
6 names
Resolves to: frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- Also called
- amyotrophic lateral sclerosis caused by mutation in CHMP2Bamyotrophic lateral sclerosis, Chmp2B-relatedCHMP2B amyotrophic lateral sclerosisCHMP2B-related amyotrophic lateral sclerosisfrontotemporal dementia, chromosome 3-linkedFTD3