KMT2A - Gene browser

KMT2A

lysine methyltransferase 2A

HCNC Approved Symbol: KMT2A (HGNC:7132)
Genomic Coordinates: 11:118,436,492 - 118,526,832 (11q23.3)
Synonyms: TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A, MLL1, ALL1, HTRX, MLL
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

54Patients

In total, 54 patients were diagnosed with a variant in the KMT2A gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

054
Patient count

Global developmental delay: 18 (33.3%)
Patient Count: 18 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
18 (33.3%)
Short stature: 14 (25.9%)
Patient Count: 14 (25.9%)
% of total patients presenting each phenotype is shown in parentheses.
14 (25.9%)
Microcephaly: 12 (22.2%)
Patient Count: 12 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
12 (22.2%)
Hypertelorism: 10 (18.5%)
Patient Count: 10 (18.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (18.5%)
Developmental delay: 10 (18.5%)
Patient Count: 10 (18.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (18.5%)