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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

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
31
Likely pathogenic
0
VUS
2,090
Likely benign
4,165
Benign
3,654

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on KMT2D gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
63%
Abnormality of the ear
55.6%
Abnormality of the musculoskeletal system
44.4%
Abnormality of the cardiovascular system
40.7%
Abnormality of the eye
37%
Abnormality of the integument
37%
Growth abnormality
37%
Abnormality of limbs
29.6%
Abnormality of the endocrine system
18.5%
Abnormality of the immune system
14.8%
Abnormality of the genitourinary system
11.1%
Abnormality of the respiratory system
7.4%
Abnormality of prenatal development or birth
3.7%
Abnormality of the digestive system
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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