European Journal of Human Genetics - Clinical utility gene card for: Maturity-onset diabetes of the young

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European Journal of Human Genetics - Clinical utility gene card for: Maturity-onset diabetes of the young

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 12 February 2014; doi: 10.1038/ejhg.2014.14

Clinical utility gene card for: Maturity-onset diabetes of the young

Kevin Colclough¹, Cécile Saint-Martin², José Timsit³, Sian Ellard^1,4 and Christine Bellanné-Chantelot²

1. ¹Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
2. ²Department of Genetics, AP-HP Hôpitaux Universitaires Pitie-Salpétrière—Charles Foix, Université Pierre et Marie Curie, Paris, France
3. ³Department of Diabetology and Endocrinology, AP-HP Groupe Hospitalier Cochin-Hôtel Dieu, Université Paris Descartes, Paris, France
4. ⁴Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK

Correspondence: Dr C Bellanné-Chantelot, Département de Génétique, AP-HP Hôpitaux Universitaires Pitié-Salpétrière—Charles Foix, Université Pierre et Marie Curie, 47/83 Bd de l'Hopital, Batiment 10 Lapeyronie, 75651, Paris, France. Tel: +33 1 42 17 76 52; Fax: +33 1 42 17 76 18; E-mail: christine.bellanne-chantelot@psl.aphp.fr

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1. Disease characteristics

1.1 Name of the disease (synonyms)

Maturity-onset diabetes of the young (MODY); MODY subtype GCK (GCK MODY, MODY2); MODY subtype HNF1A (HNF1A MODY, MODY3); MODY subtype HNF4A (HNF4A MODY, MODY1).

1.2 OMIM# of the disease

606391 (MODY); 125851 (GCK MODY); 600496 (HNF1A MODY); 125850 (HNF4A MODY).

1.3 Name of the analysed genes or DNA/chromosome segments

Glucokinase (GCK), hepatocyte nuclear factor 1 alpha (HNF1A) and hepatocyte nuclear factor 4 alpha (HNF4A).

1.4 OMIM# of the gene(s)

138079 (GCK); 142410 (HNF1A); 600281 (HNF4A).