Disorders

POLR1D-Related Treacher Collins Syndrome

Synonym(s): TCS2, Treacher Collins Syndrome 2

Gene	Locus	Protein
POLR1D	13q12.2	DNA-directed RNA polymerases I and III subunit RPAC2

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.