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Newsletter

We are currently speci= fically targeting variant data for Charcot-Marie Tooth, HNPCC and Breast Ca= ncer genes for which we are contacting the relevant laboratories. If you ha= ve any data for these or other genes, please submit your data to DMuDB or s= end us a spreadsheet for bulk oploading. New variant data for RB1, BRCA and= MSH6 will be added soon.

To expand the benefit = of DMuDB to a wider audience, NGRL Manchester is working on transfer of var= iant data from DMuDB to other Locus Specific Databases (LSDBs). A pilot is = under way for MSH6 with the InSight database. Anyone submitting MSH6 data w= ill be contacted for permission to publish their (anonymised) data.<= /p>

A new online service w= as launched in October which allows geneticists through out the world to en= quire about variant data held in DMuDB. They will be put into contact with = the appropriate NHS laboratory if the variant of interest is present in DMu= DB. Click here for more information about DMuDB Query form.

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DMuDB Update

October 2009

NGRL Manchester, Genetic Medicine, St Mary’s Hospital, Ox= ford Road, Manchester, M13 9WL,

Tel 0161 701 5388, Fax 0161 276 660= 6 Email: support@dmudb.net, ngrl.contact@cmft.nhs.uk

CMT r= eferral data and corresponding variant data for genes GJB1, PMP22, EGR2, NE= FL, MPZ and PRX sent by Thalia Antoniadi and Claire Faulkner, Bristol Genet= ics Laboratory, have been added. From the Manchester Regional Molecular Gen= etics Service Lowes Syndrome (Andrew Wallace) and GIST associated PDGFRA (N= icola Marchbank) data have been received.

Rett = Syndrome referral data and corresponding variant data for gene MECP2 were s= ent by Ruth Sutton, Northern Genetics Service (<= span lang=3Den-US style=3D'language:en-US'>Newcastle) and several Breast Cance= r referrals and corresponding variant data have been submitted by Joanna Ca= mpbell of GSTS Pathology at Guys Hospital and Christine Bell of Aberdeen Mo= lecular Genetics Laboratory.

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The r= eference sequences for the genes c-Kit, INI1, KCNQ1, KCNH2, PDGFRA, RYR2, <= /span>SCN5A, KCNE1 and KCNE2 have been ad= ded for Long QT Syndrome. If you work on those genes, you are now able to s= ubmit variant data.

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The D= MuDB spreadsheet for uploading of bulk data has been updated. The new versi= on supports protein and alternative name details of variants in two separat= e columns and also supports reference information which could be a re= ference or link to scientific publications supporting variant pathogenicity= value.

Download the sample spreadsheet

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= ;We are pleased to inform you that n= ew pathogenicity values ‘Probably Pathogenic’ and ’Probab= ly Not Pathogenic’ have been added to DMuDB, in addition to the= already existing values namely ‘Pathogenic’, ‘Non-pathog= enic’ ‘Unclassified’ and ‘Non Known’.<= /p>

You can also use Labsight for discussions

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