Home > Gene Browser > KMT2B

KMT2B

Synonyms
CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7
External resources
Summary
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known.

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
57
Likely pathogenic
2
VUS
4,018
Likely benign
3,908
Benign
6,564

Patient phenotypes

Proportions of phenotypes among 58 patients carrying pathogenic or likely pathogenic variants on KMT2B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.6%
Abnormality of the musculoskeletal system
27.6%
Abnormality of the eye
22.4%
Abnormality of the cardiovascular system
19%
Abnormality of the ear
17.2%
Abnormality of head or neck
13.8%
Abnormality of the digestive system
12.1%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of the genitourinary system
8.6%
Abnormality of limbs
6.9%
Abnormality of the respiratory system
6.9%
Abnormality of blood and blood-forming tissues
5.2%
Abnormality of the endocrine system
5.2%
Abnormality of the immune system
5.2%
Constitutional symptom
3.4%
Abnormal cellular phenotype
1.7%
Abnormality of the voice
1.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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