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Gene entry

PLEKHG5

pleckstrin homology and RhoGEF domain containing G5

Chromosome
1
Cytoband
1p36.31
Variants (rsID)
37

PLEKHG5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.31). Its official name is “pleckstrin homology and RhoGEF domain containing G5”. The reference table lists 37 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs117494970Benignsingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset
  • rs139904931Benignsingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs148560273Benignsingle nucleotide variantCharcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset
  • rs201656051Benignsingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs3007419Benignsingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset
  • rs61740145Benignsingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs111400494Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset
  • rs111624565Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs140202670Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs141032388Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset
  • rs143484278Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs144859183Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs150807400Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset
  • rs184541137Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs199794578Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset
  • rs200162521Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs59117380Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs72861528Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
  • rs778853521Conflicting interpretationssingle nucleotide variantAutosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.