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KANSL1

KAT8 regulatory NSL complex subunit 1

HCNC Approved Symbol
KANSL1 (HGNC:24565)
Genomic Coordinates
17:46,029,916 - 46,225,367 (17q21.31)
Synonyms
DKFZP727C091, MSL1v1, CENP-36, NSL1, KIAA1267
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the KANSL1 gene.

Frequently observed phenotypes

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

Global developmental delay
 4 (36.4%)
Failure to thrive
 2 (18.2%)
Global development delay
 2 (18.2%)
Ptosis
 2 (18.2%)
Developmental delay
 2 (18.2%)
KANSL1 - Gene browser | 3billion