Disorders

Cerebrooculofacioskeletal Syndrome 1

Synonym(s): Cerebro-Oculo-Facio-Skeletal Syndrome, COFS Syndrome, COFS1, Pena-Shokeir Syndrome, Type II

Gene	Locus	Protein
ERCC6	10q11	DNA excision repair protein ERCC-6

Laboratory	Test Method	Prenatal	Carrier *
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region

^* 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.