European Journal of Human Genetics - Clinical utility gene card for: 15q13.3 microdeletion syndrome

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European Journal of Human Genetics - Clinical utility gene card for: 15q13.3 microdeletion syndrome

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 14 May 2014; doi: 10.1038/ejhg.2014.88

Clinical utility gene card for: 15q13.3 microdeletion syndrome

Maria Tropeano¹, Joris Andrieux², Evangelos Vassos¹ and David A Collier^1,3

1. ¹MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London, London, UK
2. ²Institut de Génétique Médicale, CHRU de Lille, Lille, France
3. ³Discovery Neuroscience Research, Eli Lilly and Company Ltd, Lilly Research Laboratories, Erl Wood Manor, Surrey, UK

Correspondence: Dr M Tropeano or Professor DA Collier, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK. Tel: +44 20 7848 0631; Fax: +44 20 7848 0802; E-mail:maria.tropeano@kcl.ac.uk or david.collier@kcl.ac.uk

Received 27 January 2014; Revised 4 April 2014; Accepted 9 April 2014
Advance online publication 14 May 2014

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1. Disease characteristics

1.1 Name of the disease (synonyms)

15q13.3 microdeletion syndrome/Del(15)(q13.3)/15q13.3 monosomy syndrome.

1.2 OMIM# of the disease

612001.

1.3 Name of the analysed genes or DNA/chromosome segments

15q13.2q13.3, RefSeq NC_000015.9 (hg19 human reference sequence, February 2009, build 37).

1.4 OMIM# of the gene(s)

Putative candidate genes: CHRNA7, 118511; KLF13, 605328; TRPM1, 603576;FAN1, 613534.

Other genes in the critical deleted region (BP4-BP5): MTMR10, not applicable;MIR211, 613753; OTUD7A, 612024.