Disorders

POLR1C-Related Treacher Collins Syndrome

Synonym(s): TCS3, Treacher Collins Syndrome 3

Gene	Locus	Protein
POLR1C	6p21.1	DNA-directed RNA polymerases I and III subunit RPAC1

Laboratory	Test Method	Prenatal	Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.