Disorders

SEPN1-Related Myopathy

Synonym(s): Congenital Muscular Dystrophy with Early Spine Rigidity, Rigid Spine Syndrome, RSS

Gene	Locus	Protein
SEPN1	1p36.13	Selenoprotein N

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Groupe Hospitalier Pitié Salpêtrière, Molecular and Cellular Cardiogenetics and Myogenetics Unit - Paris, France
GSTS Pathology, DNA Laboratory - London, Great Britain
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
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.