Disorders

Aniridia, Cerebellar Ataxia, And Mental Retardation

Synonym(s): Gillespie Syndrome

Gene	Locus	Protein
PAX6	11p13	Paired box protein Pax-6

Laboratory	Test Method	Prenatal	Carrier *
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, 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.