Disorders

GNE-Related Myopathy

Synonym(s): Distal Myopathy with Rimmed Vacuoles, DMRV, Hereditary Inclusion Body Myopathy 2, HIBM, Nonaka Myopathy

Gene	Locus	Protein
GNE	9p13.1	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Laboratory	Test Method	Prenatal	Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
Hadassah-Hebrew University Medical Center, Molecular Biology - Goldyne Savad Institute of Gene Therapy - Jerusalem, Israel	• Targeted mutation analysis
HIBM Research Group - Reseda, CA, USA	• Targeted mutation analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
National Center of Neurology and Psychiatry, Department of Neuromuscular Research - National Institute of Neuroscience - Kodaira, Japan
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
Ruhr University, Human Genetics - Bochum, Germany
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
University of California Los Angeles, UCLA Orphan Disease Testing Center (ODTC) - Los Angeles, CA, USA	• Targeted mutation analysis

^* 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.