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KAT5

lysine acetyltransferase 5

HCNC Approved Symbol
KAT5 (HGNC:5275)
Genomic Coordinates
11:65,712,018 - 65,719,604 (11q13.1)
Synonyms
TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5, HTATIP
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
619103AD

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the KAT5 gene.

Frequently observed phenotypes

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

Dysmorphism
 1 (100.0%)