Indicator Explainer
KMT2D Gene
This gene plays a role in co-activation of gene expression.
This page explains what the indicator is and how results are interpreted in general terms. Reference ranges depend on the laboratory, the method, and your own situation — no single “normal value” applies to everyone. This page is health information, not a diagnosis. For symptoms, treatment, or urgent concerns, contact a healthcare professional.
When it is tested
Source: National Cancer Institute, NCI Thesaurus 26.09d, C24600. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.
Reading results
Reference intervals and interpretation depend on the laboratory, specimen, method and clinical context. This source definition is educational information; it does not establish a diagnosis, product approval or suitability for an individual.
Also Known As
References
- NCI Thesaurus 26.09d — KMT2D Gene (C24600)
- Source: National Cancer Institute, NCI Thesaurus 26.09d, C24600. NCI definition, reproduced without modification under CC BY 4.0.
- Establishment of a human induced pluripotent stem cell line, KMUGMCi011-A, from a patient bearing a frameshift mutation in the KMT2D gene leading Kabuki syndrome 1. — Stem Cell Res, 2026-09-07 (PMID 42710432; literature)
- Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report. — J Med Case Rep, 2026-07-21 (PMID 42482245; literature)
- A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report. — Arch Soc Esp Oftalmol (Engl Ed), 2025-06-23 (PMID 40562172; literature)
- Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation. — Front Pediatr, 2024-11-29 (PMID 39678395; literature)