Disorders

Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2

Synonym(s): Encephalocardiomyopathy Mitochondrial Neonatal due to ATP Synthase Deficiency, MC5DN2, Mitochondrial Complex V (ATP Synthase) Deficiency, TMEM70 Type

OMIM

Gene	Locus	Protein
TMEM70	8q21.11	Transmembrane protein 70

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, 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.