PLEKHG5

Curated reports relevant to this gene

• Charcot-Marie-Tooth Disease

  • Distal Hereditary Motor Neuropathy

    Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

    • 1 GenCC submitter rates it definitive or strong
  • One of 62 genes linked to it

    A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

    • 1 GenCC submitter rates it definitive or strong

    What knowing changes

    Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

• Spinal Muscular Atrophy

  • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

    • 1 GenCC submitter rates it definitive or strong

    What knowing changes

    Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

How PLEKHG5 is laid out

Exons make up 3.6 kb of the gene's 24.5 kb; 3,021 of those bases code for the protein.

How a genome test reads PLEKHG5

Genes linked to the same conditions

• DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 3 conditions
• GARS1glycyl-tRNA synthetase 1Shares 3 conditions
• HSPB8heat shock protein family B (small) member 8Shares 3 conditions
• IGHMBP2immunoglobulin mu DNA binding protein 2Shares 3 conditions
• ATP7AATPase copper transporting alphaShares 2 conditions
• BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 2 conditions
• DCTN1dynactin subunit 1Shares 2 conditions
• DNAJB2DnaJ heat shock protein family (Hsp40) member B2Shares 2 conditions
• EMILIN1elastin microfibril interfacer 1Shares 2 conditions
• FBXO38F-box protein 38Shares 2 conditions
• REEP1receptor accessory protein 1Shares 2 conditions
• SIGMAR1sigma receptor chaperone 1Shares 2 conditions

Traits linked to PLEKHG5

The Human Phenotype Ontology lists these as features of the rare conditions PLEKHG5 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.16-c6eea6bf.

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