KMT2E - Gene browser

KMT2E

lysine methyltransferase 2E (inactive)

HCNC Approved Symbol: KMT2E (HGNC:18541)
Genomic Coordinates: 7:105,014,205 - 105,115,019 (7q22.3)
Synonyms: HDCMC04P, SETD5B, MLL5
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the KMT2E gene.

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

07
Patient count

Tall stature: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Intellectual disability: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Autism: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Dysmorphic facial features: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Locomotor delay: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)