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

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
28
Likely pathogenic
3
VUS
5,017
Likely benign
3,139
Benign
2,860

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on KMT2B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.3%
Abnormality of the musculoskeletal system
24.1%
Abnormality of the cardiovascular system
17.2%
Growth abnormality
17.2%
Abnormality of head or neck
13.8%
Abnormality of the ear
13.8%
Abnormality of the eye
13.8%
Abnormality of the digestive system
10.3%
Abnormality of the immune system
10.3%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of the genitourinary system
6.9%
Abnormality of the integument
6.9%
Abnormality of the respiratory system
6.9%
Constitutional symptom
6.9%
Abnormal cellular phenotype
3.4%
Abnormality of limbs
3.4%
Abnormality of the endocrine system
3.4%
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%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes