KAT6B - Gene browser

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.

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

016
Patient count

Global developmental delay: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Atrial septal defect: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Intellectual disability: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Micrognathia: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Lowset ears: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)