Disorders

KRT1-Related Epidermolytic Hyperkeratosis

Synonym(s): KRT1-Related Bullous Congenital Ichthyosiform Erythroderma, KRT1-Related Bullous Ichthyosiform Erythroderma

OMIM

Gene	Locus	Protein
KRT1	12q13.13	Keratin

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany

^* 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.