KAT6A - Gene browser

KAT6A

lysine acetyltransferase 6A

HCNC Approved Symbol: KAT6A (HGNC:13013)
Genomic Coordinates: 8:41,929,479 - 42,051,987 (8p11.21)
Synonyms: MOZ, ZC2HC6A, ZNF220, RUNXBP2, MYST3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the KAT6A gene.

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

018
Patient count

Global developmental delay: 8 (44.4%)
Patient Count: 8 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
8 (44.4%)
Microcephaly: 6 (33.3%)
Patient Count: 6 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (33.3%)
Atrial septal defect: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Abnormal facial shape: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)
Strabismus: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)