Disorders

Weaver Syndrome 1

Synonym(s): Weaver-Smith Syndrome, WSS, WVS1

Gene	Locus	Protein
NSD1	5q35	Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany

^* 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.