Disorders

PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia

Synonym(s): EPM1B, PRICKLE1-Related Progressive Myoclonic Epilepsy with Ataxia

Gene	Locus	Protein
PRICKLE1	12p11-q12	Prickle-like protein 1

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
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.