KMT2A

lysine methyltransferase 2A

5 disorders 4 somatic driver 1 causative 11q23.3 gene with protein product

HGNC:7132 Monarch NCBI Gene 4297 ENSG00000118058 UniProt Q03164 OMIM 159555

Previous symbols: MLL. Aliases: TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A, MLL1, ALL1, HTRX.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Acute Lymphoblastic Leukemia	somatic driver somatic	mechanism: B-Lineage Developmental Program Disruption scoped to subtype: KMT2A-rearranged
Acute Megakaryoblastic Leukemia	somatic driver somatic	mechanism: KMT2A- and NUP98-Rearranged HOXA Program scoped to subtype: KMT2A-Rearranged AMKL
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality	somatic driver somatic
Mixed Phenotype Acute Leukemia	somatic driver somatic	mechanism: KMT2A Rearrangement and Aberrant HOXA Transcriptional Program scoped to subtype: MPAL KMT2A
Wiedemann-Steiner Syndrome	causative germline	mechanism: KMT2A Haploinsufficiency

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Wiedemann-Steiner syndrome MONDO:0011518	AD	Definitive 2022-05-22	Wiedemann-Steiner Syndrome causative

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via Wiedemann-Steiner Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.