domingo, 25 de mayo de 2014

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 Collier1,3
  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.

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