giant axonal neuropathy 2
MONDO:0012411Mondo
Findings
No curated finding names giant axonal neuropathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.
Definition from the Mondo Disease Ontology (MONDO:0012411), read 2026-09-29. CC BY 4.0.
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.
- DCAF8HGNC:24891
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
6 names
Resolves to: giant axonal neuropathy 2
- Also called
- autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axonsCMT2 with giant axonsDCAF8 giant axonal neuropathygiant axonal neuropathy caused by mutation in DCAF8giant axonal neuropathy type 2HMSN2 with giant axons