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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
46
VUS
7,254
Likely benign
5,758
Benign
5,910

Patient phenotypes

Proportions of phenotypes among 50 patients carring pathogenic or likely pathogenic variants on KMT2E gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42%
Abnormality of blood and blood-forming tissues
36%
Abnormality of the musculoskeletal system
24%
Abnormality of the cardiovascular system
18%
Abnormality of head or neck
16%
Abnormality of the integument
14%
Abnormality of limbs
12%
Abnormality of the ear
12%
Abnormality of the genitourinary system
12%
Growth abnormality
12%
Abnormality of the eye
8%
Abnormality of the immune system
8%
Abnormality of the respiratory system
4%
Abnormality of the digestive system
2%
Abnormality of the endocrine system
2%
Constitutional symptom
2%
Neoplasm
2%
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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