National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Galloway-Mowat syndrome

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Is there genetic testing available for Galloway-Mowat syndrome? It has been present in my family (niece), and other family members wonder if they carry the gene.

The following information may help to address your question:


Is genetic testing available for Galloway-Mowat syndrome?

The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible.[1] In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 5/23/2017

How is Galloway-Mowat syndrome inherited?

Galloway-Mowat syndrome is inherited in an autosomal recessive manner.[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 5/23/2017

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 12/6/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, et. al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. August, 2015; 138(Pt 8):2173-2190. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511861/.
  2. Galloway-Mowat Syndrome; GAMOS. Online Mendelian Inheritance in Man (OMIM). April 19, 2016; http://www.omim.org/entry/251300.