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KMT5B

lysine methyltransferase 5B

HCNC Approved Symbol
KMT5B (HGNC:24283)
Genomic Coordinates
11:68,154,863 - 68,213,648 (11q13.2)
Synonyms
CGI-85, SUV420H1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the KMT5B gene.

Frequently observed phenotypes

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

Global developmental delay
 3 (37.5%)
Motor delay
 2 (25.0%)
Intellectual disability
 2 (25.0%)
Macrocephaly
 2 (25.0%)
Developmental delay
 2 (25.0%)
KMT5B - Gene browser | 3billion