Disorders


 

Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques


Synonym(s): OLMS, Olmsted Syndrome

 

OMIM

GeneLocusProtein
TRPV317p13.3Transient receptor potential cation channel subfamily V member 3

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 

* 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.

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