Disorders

KANSL1-Related Intellectual Disability Syndrome

Synonym(s): Koolen-de Vries Syndrome, Koolen-deVries Syndrome

Gene	Locus	Protein
KANSL1	17q21.31	KAT8 regulatory NSL complex subunit 1

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.