Charcot-Marie-Tooth Neuropathy X: genes and variants

Genes linked to Charcot-Marie-Tooth Neuropathy X

• GJB1: Gap junction beta-1 protein

  It forms connexin 32 channels that support metabolic and signaling communication across layers of peripheral myelin produced by Schwann cells. Pathogenic variants cause X-linked Charcot-Marie-Tooth disease type 1, often with transient central nervous system manifestations in some individuals.

  90 disease-causing and 182 uncertain variants in GJB1 are linked to Charcot-Marie-Tooth Neuropathy X.

Where Charcot-Marie-Tooth Neuropathy X variants cluster

• GJB1 Cytoplasmic (positions 1–22): 14 of 90 disease-causing changes, 2.0× more than its size predicts.
• GJB1 Extracellular (positions 154–191): 20 of 90 disease-causing changes, 1.6× more than its size predicts.
• GJB1 Transmembrane (positions 23–45): 12 of 90 disease-causing changes, 1.6× more than its size predicts.

Known disease-causing variants in Charcot-Marie-Tooth Neuropathy X

Showing 60 of 90.

Uncertain variants in Charcot-Marie-Tooth Neuropathy X that look disease-causing

Same protein, different disease

• Charcot-Marie-Tooth disease is also caused by GJB1 variants; they fall in the same places as the Charcot-Marie-Tooth Neuropathy X variants (54 disease-causing).

Diseases related to Charcot-Marie-Tooth Neuropathy X

• Charcot-Marie-Tooth disease, also linked to GJB1
• Peripheral neuropathy, also linked to GJB1

Frequently asked questions

Which genes are linked to Charcot-Marie-Tooth Neuropathy X?

In CATVariant, Charcot-Marie-Tooth Neuropathy X is linked to 1 analyzed protein: GJB1 (Gap junction beta-1 protein).

How many genetic variants are linked to Charcot-Marie-Tooth Neuropathy X?

274 variants: 90 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 182 are of uncertain significance or have conflicting reports.

Which uncertain variants in Charcot-Marie-Tooth Neuropathy X look disease-causing?

1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example GJB1 A39T. These are leads for expert review, not diagnoses.

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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