Disorders

SNRNP200-Related Retinitis Pigmentosa

Gene	Locus	Protein
SNRNP200	2q11.2	U5 small nuclear ribonucleoprotein 200 kDa helicase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, 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.