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KMT2E

Synonyms
HDCMC04P, MLL5, NKp44L, ODLURO
External resources
Summary
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized.

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
6
Likely pathogenic
100
VUS
19,884
Likely benign
4,646
Benign
10,357

Patient phenotypes

Proportions of phenotypes among 106 patients carrying pathogenic or likely pathogenic variants on KMT2E gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
21.7%
Abnormality of blood and blood-forming tissues
17.9%
Abnormality of the musculoskeletal system
13.2%
Abnormality of head or neck
8.5%
Abnormality of the cardiovascular system
8.5%
Abnormality of the integument
8.5%
Abnormality of limbs
7.5%
Abnormality of the ear
7.5%
Abnormality of the genitourinary system
5.7%
Growth abnormality
5.7%
Abnormality of the eye
4.7%
Abnormality of the immune system
4.7%
Abnormality of the digestive system
1.9%
Abnormality of the endocrine system
1.9%
Abnormality of the respiratory system
1.9%
Constitutional symptom
1.9%
Neoplasm
0.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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