Neuronopathy, distal hereditary motor, type 5B: genes and variants
Neuronopathy, distal hereditary motor, type 5B is linked to 1 analyzed protein (REEP1). 1 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: neuronopathy, distal hereditary motor, type 2B
Genes linked to Neuronopathy, distal hereditary motor, type 5B
REEP1: Receptor expression-enhancing protein 1
It shapes tubular endoplasmic-reticulum membranes and supports interactions between the ER and neuronal cytoskeleton, particularly in long corticospinal axons. Pathogenic variants are a common cause of hereditary spastic paraplegia type 31 and can occasionally produce distal motor neuropathy.
1 disease-causing and 4 uncertain variants in REEP1 are linked to Neuronopathy, distal hereditary motor, type 5B.
Weakly linked (only a few uncertain records): FKRP.
Known disease-causing variants in Neuronopathy, distal hereditary motor, type 5B
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| REEP1 S23P | 23 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Hereditary spastic paraplegia is also caused by REEP1 variants; they fall mostly in different places as the Neuronopathy, distal hereditary motor, type 5B variants (12 disease-causing).
Diseases related to Neuronopathy, distal hereditary motor, type 5B
- Hereditary spastic paraplegia, also linked to REEP1
Frequently asked questions
Which genes are linked to Neuronopathy, distal hereditary motor, type 5B?
In CATVariant, Neuronopathy, distal hereditary motor, type 5B is linked to 1 analyzed protein: REEP1 (Receptor expression-enhancing protein 1).
How many genetic variants are linked to Neuronopathy, distal hereditary motor, type 5B?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neuronopathy, distal hereditary motor, type 5B look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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