Disorders

Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

Synonym(s): IFAP Syndrome

Gene	Locus	Protein
MBTPS2	Xp22.12-p22.11	Membrane-bound transcription factor site-2 protease

Laboratory	Test Method	Prenatal	Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland

^* 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.