Disorders

KIF7-Related Joubert Syndrome

Synonym(s): JBTS 12, Joubert Syndrome 12

Gene	Locus	Protein
KIF7	15q26.1	Kinesin-like protein KIF7

Laboratory	Test Method	Prenatal	Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.