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KAT6B

lysine acetyltransferase 6B

HCNC Approved Symbol
KAT6B (HGNC:17582)
Genomic Coordinates
10:74,824,936 - 75,032,624 (10q22.2)
Synonyms
querkopf, qkf, Morf, MOZ2, ZC2HC6B, MYST4
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

16Patients

In total, 16 patients were diagnosed with a variant in the KAT6B gene.

Frequently observed phenotypes

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

Global developmental delay
 3 (18.8%)
Atrial septal defect
 3 (18.8%)
Intellectual disability
 3 (18.8%)
Micrognathia
 3 (18.8%)
Lowset ears
 3 (18.8%)
KAT6B - Gene browser | 3billion