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Gene

IGHM

immunoglobulin heavy constant mu

Summary

Cytogenetic location
14q32.33
Locus type
Immunoglobulin gene segment
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Agammaglobulinaemia (XLA and Autosomal Forms)

    • Autosomal agammaglobulinaemia

      Absent or very few B cells caused by changes in genes of the B-cell receptor pathway, such as IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 and TCF3.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      Actionability

      Lifelong immunoglobulin replacement, prompt treatment of infections and avoiding live vaccines prevent most serious complications.

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      Actionability

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Sequencing IGHM

2

positions in IGHM where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

Genes linked to the same conditions

Traits linked to IGHM

The Human Phenotype Ontology lists these as features of the rare conditions IGHM 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.
  • GenCC and ClinGen, released 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). IGHM gene: immunoglobulin heavy constant mu. Retrieved 17 October 2026, from https://dantelabs.com/genes/ighm

Vancouver

Dante Labs. IGHM gene: immunoglobulin heavy constant mu [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ighm

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