Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;: genes and variants

Genes linked to Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

• 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.

  9 disease-causing and 19 uncertain variants in MFN2 are linked to Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;.

Where Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; variants cluster

• MFN2 Part of a helix bundle domain, formed by helices (positions 30–94): 3 of 9 disease-causing changes, 3.9× more than its size predicts.

Known disease-causing variants in Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Same protein, different disease

• Charcot-Marie-Tooth disease is also caused by MFN2 variants; they fall mostly in different places as the Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; variants (86 disease-causing).
• Charcot-Marie-Tooth disease type 2A2 is also caused by MFN2 variants; they fall mostly in different places as the Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; variants (32 disease-causing).
• Neuropathy, hereditary motor and sensory, type 6A is also caused by MFN2 variants; they fall partly in the same places as the Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; variants (6 disease-causing).

Diseases related to Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

• Charcot-Marie-Tooth disease, also linked to MFN2
• Charcot-Marie-Tooth disease type 2A2, also linked to MFN2
• Auditory neuropathy, 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
• Hereditary motor and sensory neuropathy with optic atrophy, also linked to MFN2

Frequently asked questions

Which genes are linked to Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;?

In CATVariant, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; is linked to 1 analyzed protein: MFN2 (Mitofusin-2).

How many genetic variants are linked to Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;?

33 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 19 are of uncertain significance or have conflicting reports.

Which uncertain variants in Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 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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