Disorders


 

SMARCB1-Related Coffin-Siris Syndrome


 

OMIM

GeneLocusProtein
SMARCB122q11.23SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Laboratory Test Method Prenatal Carrier *
Children's Hospital of Philadelphia, Cancer Genetics - Philadelphia, PA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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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