Disorders

Renpenning Syndrome 1

Synonym(s): Mental Retardation, X-Linked, Renpenning Type, Mental Retardation, X-Linked, with Spastic Diplegia, MRX55, MRXS3, MRXS8, PQBP1-Related Syndromic Mental Retardation, PQBP1-Related X-Linked Mental Retardation, Sutherland-Haan X-Linked Mental Retardation Syndrome, X-Linked Syndromic Mental Retardation 3, X-Linked Syndromic Mental Retardation 55, X-Linked Syndromic Mental Retardation 8

OMIM

Gene	Locus	Protein
PQBP1	Xp11.23	Polyglutamine-binding protein 1

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
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.