KMT2B - Gene browser

KMT2B

lysine methyltransferase 2B

HCNC Approved Symbol: KMT2B (HGNC:15840)
Genomic Coordinates: 19:35,718,003 - 35,738,878 (19q13.12)
Synonyms: KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4, CXXC10
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the KMT2B gene.

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

018
Patient count

Dystonia: 6 (33.3%)
Patient Count: 6 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (33.3%)
Developmental delay: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Spasticity: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Scoliosis: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Hypothyroidism: 2 (11.1%)
Patient Count: 2 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.1%)