Disorders


 

Thiamine-Responsive Megaloblastic Anemia Syndrome


Synonym(s): Rogers Syndrome, Thiamine-responsive myelodysplasia, TRMA

 

GeneReviewOMIM

GeneLocusProtein
SLC19A21q23.3Thiamine transporter 1

Laboratory Test Method Prenatal Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain  
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.

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