Disorders

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease

Synonym(s): PCWH, Waardenburg-Shah Syndrome, Neurologic Variant

Gene	Locus	Protein
SOX10	22q13.1	Transcription factor SOX-10

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, 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.