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KMT2A

Synonyms
ALL-1, ALL1, CXXC7, HRX, HTRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS
External resources
Summary
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
0
VUS
2,878
Likely benign
27,713
Benign
4,064

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on KMT2A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
78.3%
Abnormality of the musculoskeletal system
69.6%
Abnormality of head or neck
65.2%
Growth abnormality
65.2%
Abnormality of limbs
39.1%
Abnormality of the integument
34.8%
Abnormality of the eye
21.7%
Abnormality of the cardiovascular system
17.4%
Abnormality of the ear
13%
Abnormality of the genitourinary system
13%
Abnormality of the digestive system
8.7%
Abnormality of the endocrine system
8.7%
Abnormality of prenatal development or birth
4.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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