neuronopathy, distal hereditary motor, type 5A
MONDO:0015353Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, type 5A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Genes
3 genes
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.
- GARS1HGNC:4162
- Definitive · Illumina · Autosomal dominant · 2019
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- BSCL2HGNC:15832
- Supportive · Orphanet · Autosomal dominant · 2021
- REEP1HGNC:25786
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: neuronopathy, distal hereditary motor, type 5A
- Also called
- dHMN 5AHMN 5AHMN5Aneuronopathy, distal hereditary motor, type VAneuropathy, distal hereditary motor, type 5Aspinal muscular atrophy, distal, type 5Aspinal muscular atrophy, distal, with upper limb predominance