Disorders

Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

Synonym(s): Neonatal Diabetes Mellitus, Permanent, with Cerebellar Agenesis

Gene	Locus	Protein
PTF1A	10p12.31	Pancreas transcription factor 1 subunit alpha

Laboratory	Test Method	Prenatal	Carrier *
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.