European Journal of Human Genetics - Clinical utility gene card for: Long-QT syndrome (types 1-13)

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European Journal of Human Genetics - Clinical utility gene card for: Long-QT syndrome (types 1-13)

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 20 March 2013; doi: 10.1038/ejhg.2013.28

Clinical utility gene card for: Long-QT syndrome (types 1–13)

Britt-Maria Beckmann^1,4, Arthur A M Wilde² and Stefan Kääb^1,3,4

1. ¹Department of Medicine 1, University Hospital of the Ludwig Maximilians University-Campus Grosshadern, Munich, Germany


2. ²Department of cardiology AMC, Amsterdam, The Netherlands


3. ³Munich Heart Alliance, Munich, Germany

Correspondence: Dr BM Beckmann, Department of Medicine 1, University Hospital of the Ludwig Maximilians University-Campus Grosshadern, Marchioninistrasse 15, Munich 81377, Germany. Tel: +49 89 70952251; Fax: +49 89 70955251; E-mail: brittmaria.beckmann@med.uni-muenchen.de; Dr S Kääb, Department of Medicine 1, University Hospital of the Ludwig Maximilians University-Campus Grosshadern, Marchioninistrasse 15, Munich 81377, Germany. Tel.: +49 89 7095 3060; E-mail: stefan.kaab@med.uni-muenchen.de

⁴These authors contributed equally to this work.

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Long-QT syndrome (LQT, LQTS, Romano–Ward syndrome, subgroups: Jervell and Lange–Nielsen syndrome, Andersen syndrome, Timothy syndrome).

1.2 OMIM# of the disease

192500 (LQT1); 613688 (LQT2); 603830 (LQT3); 600919 (LQT4); 613695 (LQT5); 613693 (LQT6); 170390 (LQT7), Andersen syndrome; 601005 (LQT8), Timothy syndrome; 611818 (LQT9); 611819 (LQT10); 611820 (LQT11); 612955 (LQT12); 613485 (LQT13); 220400 Jervell and Lange–Nielsen syndrome 1, JLNS1; 612347 Jervell and Lange–Nielsen syndrome 2, JLNS2

1.3 Name of the analysed genes or DNA/chromosome segments

LQT1: KCNQ1, 11p15.5; LQT2: KCNH2, 7q35-q36; LQT3: SCN5A, 3p21; LQT4: ANK2, 4q25-q27; LQT5: KCNE1, 21q22.1-q22.2; LQT6: KCNE2, 21q22.1; LQT7: KCNJ2, 17q23.1-q24.2; LQT8: CACNA1C, 12p13.3; LQT9: CAV3, 3p25; LQT10: SCN4B, 11q23; LQT11: AKAP9, 7q21-q22; LQT12: SNTA1, 20q11.2; LQT13: KCNJ5, 11q24; JLNS1: KCNQ1, homozygous or compound heterozygous, 11p15.5; JLNS2: KCNE1, homozygous or compound heterozygous, 21q22.

1.4 OMIM# of the gene(s)

607542 (LQT1), 152427 (LQT2), 600163 (LQT3), 106410 (LQT4), 176261 (LQT5), 603796 (LQT6), 600681 (LQT7), 114205 (LQT8), 601253 (LQT9), 608256 (LQT10), 604001 (LQT11), 601017 (LQT12), 600734 (LQT13).