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KMT2D

Synonyms
AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21
External resources
Summary
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome.

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
37
Likely pathogenic
2
VUS
3,611
Likely benign
5,574
Benign
6,266

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on KMT2D gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
69.2%
Abnormality of the nervous system
69.2%
Abnormality of the ear
48.7%
Abnormality of the musculoskeletal system
43.6%
Abnormality of the integument
38.5%
Abnormality of the cardiovascular system
35.9%
Abnormality of limbs
33.3%
Abnormality of the eye
33.3%
Growth abnormality
33.3%
Abnormality of the endocrine system
17.9%
Abnormality of the genitourinary system
15.4%
Abnormality of the immune system
12.8%
Abnormality of the digestive system
10.3%
Abnormality of the respiratory system
10.3%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of prenatal development or birth
7.7%
Abnormality of the breast
2.6%
Neoplasm
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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