Disorders


 

Progressive Myoclonic Epilepsy 6


Synonym(s): EPM6, Progressive Myoclonus Epilepsy 6

 

OMIM

GeneLocusProtein
GOSR217q21Golgi SNAP receptor complex member 2

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, 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.

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