neuronopathy, distal hereditary motor, type 2B
MONDO:0012080Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, type 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012080), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- HSPB1HGNC:5246
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, type 2B
- Also called
- HSPB1 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in HSPB1