Hereditary motor and sensory neuropathy with optic atrophy: genes and variants
Hereditary motor and sensory neuropathy with optic atrophy is linked to 1 analyzed protein (MFN2). 3 DNA variants are known to cause it; 8 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary motor and sensory neuropathy with optic atrophy
MFN2: Mitofusin-2
It promotes outer-mitochondrial-membrane fusion and coordinates mitochondrial transport, distribution, and contacts with other organelles. Pathogenic variants are a major cause of Charcot-Marie-Tooth disease type 2A and related axonal neuropathies.
3 disease-causing and 8 uncertain variants in MFN2 are linked to Hereditary motor and sensory neuropathy with optic atrophy.
Known disease-causing variants in Hereditary motor and sensory neuropathy with optic atrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MFN2 R104W | 104 | Dynamin-type G | Disease-causing (★★) |
| MFN2 W740S | 740 | Part of a helix bundle domain, formed by helices | Disease-causing (★★) |
| MFN2 F240L | 240 | Dynamin-type G | Disease-causing (★) |
Same protein, different disease
- Charcot-Marie-Tooth disease is also caused by MFN2 variants; they fall mostly in different places as the Hereditary motor and sensory neuropathy with optic atrophy variants (86 disease-causing).
- Charcot-Marie-Tooth disease type 2A2 is also caused by MFN2 variants; they fall mostly in different places as the Hereditary motor and sensory neuropathy with optic atrophy variants (32 disease-causing).
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; is also caused by MFN2 variants; they fall mostly in different places as the Hereditary motor and sensory neuropathy with optic atrophy variants (9 disease-causing).
- Neuropathy, hereditary motor and sensory, type 6A is also caused by MFN2 variants; they fall mostly in different places as the Hereditary motor and sensory neuropathy with optic atrophy variants (6 disease-causing).
Diseases related to Hereditary motor and sensory neuropathy with optic atrophy
- Charcot-Marie-Tooth disease, also linked to MFN2
- Charcot-Marie-Tooth disease type 2A2, also linked to MFN2
- Auditory neuropathy, also linked to MFN2
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, also linked to MFN2
- Neuropathy, hereditary motor and sensory, type 6A, also linked to MFN2
- Peripheral neuropathy, also linked to MFN2
- Cerebellar ataxia, also linked to MFN2
Frequently asked questions
Which genes are linked to Hereditary motor and sensory neuropathy with optic atrophy?
In CATVariant, Hereditary motor and sensory neuropathy with optic atrophy is linked to 1 analyzed protein: MFN2 (Mitofusin-2).
How many genetic variants are linked to Hereditary motor and sensory neuropathy with optic atrophy?
11 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 8 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary motor and sensory neuropathy with optic atrophy 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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