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KATNIP

katanin interacting protein

HCNC Approved Symbol
KATNIP (HGNC:29068)
Genomic Coordinates
16:27,550,144 - 27,780,344 (16p12.1)
Synonyms
JBTS26, KIAA0556
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the KATNIP gene.

Frequently observed phenotypes

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

Hypotonia
 2 (66.7%)
Intellectual disability
 2 (66.7%)
Ocular depression
 2 (66.7%)
Retarded psychomotor development
 2 (66.7%)
Agenesis of corpus callosum
 1 (33.3%)
KATNIP - Gene browser | 3billion